Canonical Allele Identifier: CA348406306

Gene: PROC

Linked Data

• dbSNP Id: rs1238855623
• gnomAD v3: 2-127428779-G-A
• gnomAD v4: 2-127428779-G-A
• MyVariant Identifiers: chr2:g.128186355G>A (hg19) ; chr2:g.127428779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428779G>A , CM000664.2:g.127428779G>A	GRCh38
NC_000002.11:g.128186355G>A , CM000664.1:g.128186355G>A	GRCh37
NC_000002.10:g.127902825G>A	NCBI36
NG_016323.1:g.15360G>A , LRG_599:g.15360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1219G>A MANE Select	ENSP00000234071.4:p.Val407Ile
ENST00000234071.7:c.1219G>A	ENSP00000234071.3:p.Val407Ile
ENST00000402125.2:c.543G>A
ENST00000409048.1:c.1321G>A	ENSP00000386679.1:p.Val441Ile
NM_000312.3:c.1219G>A , LRG_599t1:c.1219G>A	NP_000303.1:p.Val407Ile
XM_005263715.3:c.1402G>A	XP_005263772.1:p.Val468Ile
XM_005263716.3:c.1384G>A	XP_005263773.1:p.Val462Ile
XM_005263717.3:c.1282G>A	XP_005263774.1:p.Val428Ile
XR_923313.1:n.1332-515C>T
XM_005263717.4:c.1282G>A	XP_005263774.1:p.Val428Ile
XM_017004505.1:c.1462G>A	XP_016859994.1:p.Val488Ile
XM_024453002.1:c.1564G>A	XP_024308770.1:p.Val522Ile
XM_024453003.1:c.1504G>A	XP_024308771.1:p.Val502Ile
XM_024453004.1:c.1402G>A	XP_024308772.1:p.Val468Ile
XM_024453005.1:c.1384G>A	XP_024308773.1:p.Val462Ile
XM_024453006.1:c.1321G>A	XP_024308774.1:p.Val441Ile
XR_001739705.1:n.3607-515C>T
XR_923313.2:n.4043-515C>T
NM_000312.4:c.1219G>A MANE Select	NP_000303.1:p.Val407Ile
NM_001375602.1:c.1402G>A	NP_001362531.1:p.Val468Ile
NM_001375603.1:c.1384G>A	NP_001362532.1:p.Val462Ile
NM_001375604.1:c.1282G>A	NP_001362533.1:p.Val428Ile
NM_001375605.1:c.1321G>A	NP_001362534.1:p.Val441Ile
NM_001375606.1:c.1387G>A	NP_001362535.1:p.Val463Ile
NM_001375607.1:c.1405G>A	NP_001362536.1:p.Val469Ile
NM_001375608.1:c.1162G>A	NP_001362537.1:p.Val388Ile
NM_001375609.1:c.1195G>A	NP_001362538.1:p.Val399Ile
NM_001375610.1:c.1213G>A	NP_001362539.1:p.Val405Ile
NM_001375611.1:c.1219G>A	NP_001362540.1:p.Val407Ile
NM_001375613.1:c.1219G>A	NP_001362542.1:p.Val407Ile