Canonical Allele Identifier: CA1859563

Gene: PROC

Linked Data

• dbSNP Id: rs766695272
• ExAC: 2:128186436 G / A
• gnomAD v2: 2-128186436-G-A
• gnomAD v3: 2-127428860-G-A
• gnomAD v4: 2-127428860-G-A
• COSMIC: COSM3425166 ; COSM5079332
• MyVariant Identifiers: chr2:g.128186436G>A (hg19) ; chr2:g.127428860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428860G>A , CM000664.2:g.127428860G>A	GRCh38
NC_000002.11:g.128186436G>A , CM000664.1:g.128186436G>A	GRCh37
NC_000002.10:g.127902906G>A	NCBI36
NG_016323.1:g.15441G>A , LRG_599:g.15441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1300G>A MANE Select	ENSP00000234071.4:p.Val434Ile
ENST00000234071.7:c.1300G>A	ENSP00000234071.3:p.Val434Ile
ENST00000402125.2:c.624G>A
ENST00000409048.1:c.1402G>A	ENSP00000386679.1:p.Val468Ile
NM_000312.3:c.1300G>A , LRG_599t1:c.1300G>A	NP_000303.1:p.Val434Ile
XM_005263715.3:c.1483G>A	XP_005263772.1:p.Val495Ile
XM_005263716.3:c.1465G>A	XP_005263773.1:p.Val489Ile
XM_005263717.3:c.1363G>A	XP_005263774.1:p.Val455Ile
XR_923313.1:n.1332-596C>T
XM_005263717.4:c.1363G>A	XP_005263774.1:p.Val455Ile
XM_017004505.1:c.1543G>A	XP_016859994.1:p.Val515Ile
XM_024453002.1:c.1645G>A	XP_024308770.1:p.Val549Ile
XM_024453003.1:c.1585G>A	XP_024308771.1:p.Val529Ile
XM_024453004.1:c.1483G>A	XP_024308772.1:p.Val495Ile
XM_024453005.1:c.1465G>A	XP_024308773.1:p.Val489Ile
XM_024453006.1:c.1402G>A	XP_024308774.1:p.Val468Ile
XR_001739705.1:n.3607-596C>T
XR_923313.2:n.4043-596C>T
NM_000312.4:c.1300G>A MANE Select	NP_000303.1:p.Val434Ile
NM_001375602.1:c.1483G>A	NP_001362531.1:p.Val495Ile
NM_001375603.1:c.1465G>A	NP_001362532.1:p.Val489Ile
NM_001375604.1:c.1363G>A	NP_001362533.1:p.Val455Ile
NM_001375605.1:c.1402G>A	NP_001362534.1:p.Val468Ile
NM_001375606.1:c.1468G>A	NP_001362535.1:p.Val490Ile
NM_001375607.1:c.1486G>A	NP_001362536.1:p.Val496Ile
NM_001375608.1:c.1243G>A	NP_001362537.1:p.Val415Ile
NM_001375609.1:c.1276G>A	NP_001362538.1:p.Val426Ile
NM_001375610.1:c.1294G>A	NP_001362539.1:p.Val432Ile
NM_001375611.1:c.1300G>A	NP_001362540.1:p.Val434Ile
NM_001375613.1:c.1300G>A	NP_001362542.1:p.Val434Ile