Canonical Allele Identifier: CA2836046

Linked Data

dbSNP Id: rs762053519
gnomAD v2: 4-5754744-A-G
gnomAD v4: 4-5753017-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5753017A>G , CM000666.2:g.5753017A>G GRCh38
NC_000004.11:g.5754744A>G , CM000666.1:g.5754744A>G GRCh37
NC_000004.10:g.5805645A>G NCBI36
NG_008843.1:g.46821A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.1280A>G (EVC) MANE Select ENSP00000264956.6:p.Lys427Arg
ENST00000264956.10:c.1280A>G (EVC) ENSP00000264956.6:p.Lys427Arg
ENST00000506216.5:n.1648-4705T>C (CRMP1)
ENST00000509451.1:c.1280A>G (EVC) ENSP00000426774.1:p.Lys427Arg
ENST00000514919.1:n.343A>G (EVC)
NM_001306090.1:c.1280A>G (EVC) NP_001293019.1:p.Lys427Arg
NM_001306092.1:c.1280A>G (EVC) NP_001293021.1:p.Lys427Arg
NM_153717.2:c.1280A>G (EVC) NP_714928.1:p.Lys427Arg
XM_006713865.2:c.1280A>G (EVC) XP_006713928.1:p.Lys427Arg
XM_006713866.2:c.1280A>G (EVC) XP_006713929.1:p.Lys427Arg
XM_011513419.1:c.1280A>G (EVC) XP_011511721.1:p.Lys427Arg
XR_427473.2:n.1470A>G (EVC)
XR_427475.2:n.1470A>G (EVC)
XR_427476.2:n.1470A>G (EVC)
XR_924920.1:n.1470A>G (EVC)
XR_924921.1:n.1470A>G (EVC)
XR_924922.1:n.1470A>G (EVC)
XR_924923.1:n.1470A>G (EVC)
XR_924924.1:n.1470A>G (EVC)
XR_924925.1:n.1470A>G (EVC)
XR_924926.1:n.1470A>G (EVC)
XR_924927.1:n.1470A>G (EVC)
XR_924928.1:n.1472A>G (EVC)
XM_006713865.3:c.1280A>G (EVC) XP_006713928.1:p.Lys427Arg
XM_006713866.3:c.1280A>G (EVC) XP_006713929.1:p.Lys427Arg
XM_011513419.2:c.1280A>G (EVC) XP_011511721.1:p.Lys427Arg
XM_017007883.2:c.1280A>G (EVC) XP_016863372.1:p.Lys427Arg
XR_001741164.1:n.1460A>G (EVC)
XR_001741165.1:n.1460A>G (EVC)
XR_001741166.1:n.1460A>G (EVC)
XR_001741167.1:n.1460A>G (EVC)
XR_001741168.1:n.1460A>G (EVC)
XR_001741169.2:n.1324A>G (EVC)
XR_001741170.1:n.1462A>G (EVC)
XR_001741171.1:n.765A>G (EVC)
XR_427473.3:n.1460A>G (EVC)
XR_427475.3:n.1460A>G (EVC)
XR_427476.3:n.1460A>G (EVC)
XR_924920.2:n.1460A>G (EVC)
XR_924921.2:n.1460A>G (EVC)
XR_924922.2:n.1460A>G (EVC)
XR_924924.2:n.1460A>G (EVC)
XR_924925.2:n.1460A>G (EVC)
XR_924926.2:n.1460A>G (EVC)
NM_153717.3:c.1280A>G (EVC) MANE Select NP_714928.1:p.Lys427Arg
NM_001306090.2:c.1280A>G (EVC) NP_001293019.1:p.Lys427Arg
NM_001306092.2:c.1280A>G (EVC) NP_001293021.1:p.Lys427Arg