Canonical Allele Identifier: CA356151062

Linked Data

dbSNP Id: rs1716328866
gnomAD v3: 4-5808289-A-G
gnomAD v4: 4-5808289-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808289A>G , CM000666.2:g.5808289A>G GRCh38
NC_000004.11:g.5810016A>G , CM000666.1:g.5810016A>G GRCh37
NC_000004.10:g.5860917A>G NCBI36
NG_008843.1:g.102093A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2650A>G (EVC) MANE Select ENSP00000264956.6:p.Met884Val
ENST00000264956.10:c.2650A>G (EVC) ENSP00000264956.6:p.Met884Val
ENST00000506216.5:n.1647+17205T>C (CRMP1)
NM_001306090.1:c.2650A>G (EVC) NP_001293019.1:p.Met884Val
NM_153717.2:c.2650A>G (EVC) NP_714928.1:p.Met884Val
XM_006713865.2:c.2650A>G (EVC) XP_006713928.1:p.Met884Val
XM_006713866.2:c.2650A>G (EVC) XP_006713929.1:p.Met884Val
XR_427473.2:n.2840A>G (EVC)
XR_427475.2:n.2840A>G (EVC)
XR_427476.2:n.2840A>G (EVC)
XR_924920.1:n.2840A>G (EVC)
XR_924921.1:n.2840A>G (EVC)
XR_924922.1:n.2840A>G (EVC)
XR_924923.1:n.2840A>G (EVC)
XR_924924.1:n.2840A>G (EVC)
XR_924925.1:n.2840A>G (EVC)
XR_924926.1:n.2840A>G (EVC)
XR_924927.1:n.2840A>G (EVC)
XM_006713865.3:c.2650A>G (EVC) XP_006713928.1:p.Met884Val
XM_006713866.3:c.2650A>G (EVC) XP_006713929.1:p.Met884Val
XR_001741164.1:n.2830A>G (EVC)
XR_001741165.1:n.2830A>G (EVC)
XR_001741166.1:n.2830A>G (EVC)
XR_001741167.1:n.2830A>G (EVC)
XR_001741168.1:n.2830A>G (EVC)
XR_001741169.2:n.2694A>G (EVC)
XR_001741170.1:n.2915A>G (EVC)
XR_001741171.1:n.2135A>G (EVC)
XR_427473.3:n.2830A>G (EVC)
XR_427475.3:n.2830A>G (EVC)
XR_427476.3:n.2830A>G (EVC)
XR_924920.2:n.2830A>G (EVC)
XR_924921.2:n.2830A>G (EVC)
XR_924922.2:n.2830A>G (EVC)
XR_924924.2:n.2830A>G (EVC)
XR_924925.2:n.2830A>G (EVC)
XR_924926.2:n.2830A>G (EVC)
NM_153717.3:c.2650A>G (EVC) MANE Select NP_714928.1:p.Met884Val
NM_001306090.2:c.2650A>G (EVC) NP_001293019.1:p.Met884Val