Canonical Allele Identifier: CA348406520

Gene: PROC

Linked Data

• gnomAD v4: 2-127428828-G-A
• MyVariant Identifiers: chr2:g.128186404G>A (hg19) ; chr2:g.127428828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428828G>A , CM000664.2:g.127428828G>A	GRCh38
NC_000002.11:g.128186404G>A , CM000664.1:g.128186404G>A	GRCh37
NC_000002.10:g.127902874G>A	NCBI36
NG_016323.1:g.15409G>A , LRG_599:g.15409G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1268G>A MANE Select	ENSP00000234071.4:p.Gly423Asp
ENST00000234071.7:c.1268G>A	ENSP00000234071.3:p.Gly423Asp
ENST00000402125.2:c.592G>A
ENST00000409048.1:c.1370G>A	ENSP00000386679.1:p.Gly457Asp
NM_000312.3:c.1268G>A , LRG_599t1:c.1268G>A	NP_000303.1:p.Gly423Asp
XM_005263715.3:c.1451G>A	XP_005263772.1:p.Gly484Asp
XM_005263716.3:c.1433G>A	XP_005263773.1:p.Gly478Asp
XM_005263717.3:c.1331G>A	XP_005263774.1:p.Gly444Asp
XR_923313.1:n.1332-564C>T
XM_005263717.4:c.1331G>A	XP_005263774.1:p.Gly444Asp
XM_017004505.1:c.1511G>A	XP_016859994.1:p.Gly504Asp
XM_024453002.1:c.1613G>A	XP_024308770.1:p.Gly538Asp
XM_024453003.1:c.1553G>A	XP_024308771.1:p.Gly518Asp
XM_024453004.1:c.1451G>A	XP_024308772.1:p.Gly484Asp
XM_024453005.1:c.1433G>A	XP_024308773.1:p.Gly478Asp
XM_024453006.1:c.1370G>A	XP_024308774.1:p.Gly457Asp
XR_001739705.1:n.3607-564C>T
XR_923313.2:n.4043-564C>T
NM_000312.4:c.1268G>A MANE Select	NP_000303.1:p.Gly423Asp
NM_001375602.1:c.1451G>A	NP_001362531.1:p.Gly484Asp
NM_001375603.1:c.1433G>A	NP_001362532.1:p.Gly478Asp
NM_001375604.1:c.1331G>A	NP_001362533.1:p.Gly444Asp
NM_001375605.1:c.1370G>A	NP_001362534.1:p.Gly457Asp
NM_001375606.1:c.1436G>A	NP_001362535.1:p.Gly479Asp
NM_001375607.1:c.1454G>A	NP_001362536.1:p.Gly485Asp
NM_001375608.1:c.1211G>A	NP_001362537.1:p.Gly404Asp
NM_001375609.1:c.1244G>A	NP_001362538.1:p.Gly415Asp
NM_001375610.1:c.1262G>A	NP_001362539.1:p.Gly421Asp
NM_001375611.1:c.1268G>A	NP_001362540.1:p.Gly423Asp
NM_001375613.1:c.1268G>A	NP_001362542.1:p.Gly423Asp