Transcript #00025606 (NM_000425.4, L1CAM gene)

Transcript name transcript variant 1
Gene name L1CAM (L1 cell adhesion molecule)
Chromosome X
Transcript - NCBI ID NM_000425.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000416.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

114 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-468615_*417312dup r.0? p.0?
-?/. - c.36C>A r.(?) p.(Leu12=)
-?/. - c.39C>T r.(?) p.(Leu13=)
-?/. - c.113C>T r.(?) p.(Thr38Met)
-/. - c.197+17G>A r.(=) p.(=)
?/. - c.293C>T r.(?) p.(Thr98Met)
-?/. - c.294G>A r.(?) p.(Thr98=)
-?/. - c.294G>T r.(?) p.(Thr98=)
?/. - c.300C>G r.(?) p.(Asn100Lys)
-?/. - c.351C>T r.(?) p.(Ser117=)
-?/. - c.366C>T r.(?) p.(Thr122=)
-?/. - c.391A>G r.(?) p.(Met131Val)
-?/. - c.396C>T r.(?) p.(Ala132=)
?/. - c.400+9C>T r.(=) p.(=)
-?/. - c.523A>C r.(?) p.(Lys175Gln)
-?/. - c.524-20G>A r.(=) p.(=)
-?/. - c.591T>C r.(?) p.(Asn197=)
+/. - c.604G>A r.(?) p.(Asp202Asn)
+/. 6 c.604G>T r.(?) p.(Asp202Tyr)
-?/. - c.649A>C r.(?) p.(Arg217=)
+/. - c.667G>T r.(?) p.(Glu223Ter)
+?/. - c.694+1G>A r.spl? p.?
?/. - c.719C>T r.(?) p.(Pro240Leu)
-?/. - c.736A>G r.(?) p.(Thr246Ala)
-?/. - c.816C>T r.(?) p.(Pro272=)
-/. - c.855C>T r.(?) p.(Ala285=)
+/. - c.925G>A r.(?) p.(Glu309Lys)
?/. - c.964C>T r.(?) p.(Arg322Trp)
-?/. - c.984C>T r.(?) p.(Thr328=)
?/. - c.985G>A r.(?) p.(Val329Met)
?/. - c.985G>A r.(?) p.(Val329Met)
?/. - c.991+3dup r.spl? p.?
+/. - c.998C>T r.(?) p.(Pro333Leu)
?/. - c.1021A>G r.(?) p.(Ser341Gly)
?/. - c.1051C>T r.(?) p.(Arg351Cys)
-?/. - c.1107C>T r.(?) p.(Asn369=)
+/. - c.1124-6_1124-3dup r.spl? p.?
?/. - c.1124-3C>T r.spl? p.?
?/. - c.1199T>C r.(?) p.(Met400Thr)
+/. - c.1267C>T r.(?) p.(Gln423*)
?/. - c.1268-114C>G r.(=) p.(=)
?/. - c.1268-114C>G r.(=) p.(=)
-/. - c.1268-10C>T r.(=) p.(=)
?/. - c.1414G>A r.(?) p.(Glu472Lys)
+/. - c.1453C>T r.(?) p.(Arg485Ter)
-?/. - c.1547-18C>T r.(=) p.(=)
+/. - c.1547-1G>C r.spl? p.?
+/. - c.1570C>T r.(?) p.(Pro524Ser)
-?/. - c.1574G>A r.(?) p.(Arg525His)
-?/. - c.1704-14C>T r.(=) p.(=)
-?/. - c.1781G>A r.(?) p.(Ser594Asn)
-?/. - c.1786G>A r.(?) p.(Glu596Lys)
-?/. - c.1814A>G r.(?) p.(Gln605Arg)
?/. - c.1853T>A r.(?) p.(Leu618Gln)
-?/. - c.1863C>T r.(?) p.(Ser621=)
?/. - c.1909C>T r.(?) p.(Pro637Ser)
?/. - c.1993C>G r.(?) p.(Leu665Val)
?/. - c.2072C>T r.(?) p.(Ala691Val)
+?/. 17 c.2205G>A r.(?) p.(Trp735*)
-/. - c.2209-6C>T r.(=) p.(=)
-/. - c.2211G>A r.(?) p.(Pro737=)
-?/. - c.2211G>A r.(?) p.(Pro737=)
-?/. - c.2232C>T r.(?) p.(Asn744=)
+/. 18 c.2278C>T r.(?) p.(Arg760Ter)
-?/. - c.2295G>A r.(?) p.(Glu765=)
?/. - c.2302G>A r.(?) p.(Val768Ile)
-?/. - c.2302G>A r.(?) p.(Val768Ile)
-?/. - c.2302G>A r.(?) p.(Val768Ile)
?/. - c.2302G>A r.(?) p.(Val768Ile)
-?/. - c.2302G>A r.(?) p.(Val768Ile)
-/. - c.2307C>T r.(?) p.(Ser769=)
-?/. - c.2371G>A r.(?) p.(Val791Ile)
?/. - c.2402A>G r.(?) p.(Gln801Arg)
?/. - c.2526G>T r.(?) p.(Lys842Asn)
-?/. - c.2537G>A r.(?) p.(Arg846His)
-?/. - c.2553G>A r.(?) p.(Thr851=)
-?/. - c.2565G>T r.(?) p.(Glu855Asp)
?/. - c.2565G>T r.(?) p.(Glu855Asp)
?/. - c.2605G>A r.(?) p.(Asp869Asn)
-?/. - c.2643C>A r.(?) p.(Ile881=)
-?/. - c.2657G>A r.(?) p.(Arg886Gln)
-?/. - c.2722G>A r.(?) p.(Glu908Lys)
-?/. - c.2763C>T r.(?) p.(Pro921=)
+/. - c.2784C>A r.(?) p.(Cys928*)
-?/. - c.2872+4C>A r.spl? p.?
?/. - c.2920G>A r.(?) p.(Glu974Lys)
-?/. - c.2920G>A r.(?) p.(Glu974Lys)
?/. - c.2966A>G r.(?) p.(Tyr989Cys)
-?/. - c.3081G>T r.(?) p.(Ala1027=)
-?/. - c.3150G>T r.(?) p.(Leu1050Phe)
-?/. - c.3192G>T r.(?) p.(Ser1064=)
-?/. - c.3228G>A r.(?) p.(Thr1076=)
?/. - c.3314A>G r.(?) p.(Asn1105Ser)
?/. - c.3323-84C>T r.(=) p.(=)
?/. - c.3323-84C>T r.(=) p.(=)
?/. - c.3323-19dup r.(=) p.(=)
-?/. - c.3323-19dup r.(=) p.(=)
-?/. - c.3327C>T r.(?) p.(Arg1109=)
-?/. - c.3351C>T r.(?) p.(Phe1117=)
-?/. - c.3444C>T r.(?) p.(Gly1148=)
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