Canonical Allele Identifier: CA2836043

Linked Data

dbSNP Id: rs775388162
gnomAD v2: 4-5754725-C-G
gnomAD v4: 4-5752998-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5752998C>G , CM000666.2:g.5752998C>G GRCh38
NC_000004.11:g.5754725C>G , CM000666.1:g.5754725C>G GRCh37
NC_000004.10:g.5805626C>G NCBI36
NG_008843.1:g.46802C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.1261C>G (EVC) MANE Select ENSP00000264956.6:p.Leu421Val
ENST00000264956.10:c.1261C>G (EVC) ENSP00000264956.6:p.Leu421Val
ENST00000506216.5:n.1648-4686G>C (CRMP1)
ENST00000509451.1:c.1261C>G (EVC) ENSP00000426774.1:p.Leu421Val
ENST00000514919.1:n.324C>G (EVC)
NM_001306090.1:c.1261C>G (EVC) NP_001293019.1:p.Leu421Val
NM_001306092.1:c.1261C>G (EVC) NP_001293021.1:p.Leu421Val
NM_153717.2:c.1261C>G (EVC) NP_714928.1:p.Leu421Val
XM_006713865.2:c.1261C>G (EVC) XP_006713928.1:p.Leu421Val
XM_006713866.2:c.1261C>G (EVC) XP_006713929.1:p.Leu421Val
XM_011513419.1:c.1261C>G (EVC) XP_011511721.1:p.Leu421Val
XR_427473.2:n.1451C>G (EVC)
XR_427475.2:n.1451C>G (EVC)
XR_427476.2:n.1451C>G (EVC)
XR_924920.1:n.1451C>G (EVC)
XR_924921.1:n.1451C>G (EVC)
XR_924922.1:n.1451C>G (EVC)
XR_924923.1:n.1451C>G (EVC)
XR_924924.1:n.1451C>G (EVC)
XR_924925.1:n.1451C>G (EVC)
XR_924926.1:n.1451C>G (EVC)
XR_924927.1:n.1451C>G (EVC)
XR_924928.1:n.1453C>G (EVC)
XM_006713865.3:c.1261C>G (EVC) XP_006713928.1:p.Leu421Val
XM_006713866.3:c.1261C>G (EVC) XP_006713929.1:p.Leu421Val
XM_011513419.2:c.1261C>G (EVC) XP_011511721.1:p.Leu421Val
XM_017007883.2:c.1261C>G (EVC) XP_016863372.1:p.Leu421Val
XR_001741164.1:n.1441C>G (EVC)
XR_001741165.1:n.1441C>G (EVC)
XR_001741166.1:n.1441C>G (EVC)
XR_001741167.1:n.1441C>G (EVC)
XR_001741168.1:n.1441C>G (EVC)
XR_001741169.2:n.1305C>G (EVC)
XR_001741170.1:n.1443C>G (EVC)
XR_001741171.1:n.746C>G (EVC)
XR_427473.3:n.1441C>G (EVC)
XR_427475.3:n.1441C>G (EVC)
XR_427476.3:n.1441C>G (EVC)
XR_924920.2:n.1441C>G (EVC)
XR_924921.2:n.1441C>G (EVC)
XR_924922.2:n.1441C>G (EVC)
XR_924924.2:n.1441C>G (EVC)
XR_924925.2:n.1441C>G (EVC)
XR_924926.2:n.1441C>G (EVC)
NM_153717.3:c.1261C>G (EVC) MANE Select NP_714928.1:p.Leu421Val
NM_001306090.2:c.1261C>G (EVC) NP_001293019.1:p.Leu421Val
NM_001306092.2:c.1261C>G (EVC) NP_001293021.1:p.Leu421Val