Canonical Allele Identifier: CA2836613

Linked Data

dbSNP Id: rs150065352
gnomAD v2: 4-5809933-T-A
gnomAD v3: 4-5808206-T-A
gnomAD v4: 4-5808206-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808206T>A , CM000666.2:g.5808206T>A GRCh38
NC_000004.11:g.5809933T>A , CM000666.1:g.5809933T>A GRCh37
NC_000004.10:g.5860834T>A NCBI36
NG_008843.1:g.102010T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2567T>A (EVC) MANE Select ENSP00000264956.6:p.Leu856Gln
ENST00000264956.10:c.2567T>A (EVC) ENSP00000264956.6:p.Leu856Gln
ENST00000506216.5:n.1647+17288A>T (CRMP1)
NM_001306090.1:c.2567T>A (EVC) NP_001293019.1:p.Leu856Gln
NM_153717.2:c.2567T>A (EVC) NP_714928.1:p.Leu856Gln
XM_006713865.2:c.2567T>A (EVC) XP_006713928.1:p.Leu856Gln
XM_006713866.2:c.2567T>A (EVC) XP_006713929.1:p.Leu856Gln
XR_427473.2:n.2757T>A (EVC)
XR_427475.2:n.2757T>A (EVC)
XR_427476.2:n.2757T>A (EVC)
XR_924920.1:n.2757T>A (EVC)
XR_924921.1:n.2757T>A (EVC)
XR_924922.1:n.2757T>A (EVC)
XR_924923.1:n.2757T>A (EVC)
XR_924924.1:n.2757T>A (EVC)
XR_924925.1:n.2757T>A (EVC)
XR_924926.1:n.2757T>A (EVC)
XR_924927.1:n.2757T>A (EVC)
XM_006713865.3:c.2567T>A (EVC) XP_006713928.1:p.Leu856Gln
XM_006713866.3:c.2567T>A (EVC) XP_006713929.1:p.Leu856Gln
XR_001741164.1:n.2747T>A (EVC)
XR_001741165.1:n.2747T>A (EVC)
XR_001741166.1:n.2747T>A (EVC)
XR_001741167.1:n.2747T>A (EVC)
XR_001741168.1:n.2747T>A (EVC)
XR_001741169.2:n.2611T>A (EVC)
XR_001741170.1:n.2832T>A (EVC)
XR_001741171.1:n.2052T>A (EVC)
XR_427473.3:n.2747T>A (EVC)
XR_427475.3:n.2747T>A (EVC)
XR_427476.3:n.2747T>A (EVC)
XR_924920.2:n.2747T>A (EVC)
XR_924921.2:n.2747T>A (EVC)
XR_924922.2:n.2747T>A (EVC)
XR_924924.2:n.2747T>A (EVC)
XR_924925.2:n.2747T>A (EVC)
XR_924926.2:n.2747T>A (EVC)
NM_153717.3:c.2567T>A (EVC) MANE Select NP_714928.1:p.Leu856Gln
NM_001306090.2:c.2567T>A (EVC) NP_001293019.1:p.Leu856Gln