Canonical Allele Identifier: CA1859518

Gene: PROC

Linked Data

• dbSNP Id: rs375912553
• ExAC: 2:128186211 G / A
• gnomAD v2: 2-128186211-G-A
• gnomAD v3: 2-127428635-G-A
• gnomAD v4: 2-127428635-G-A
• COSMIC: COSM1006211
• MyVariant Identifiers: chr2:g.128186211G>A (hg19) ; chr2:g.127428635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428635G>A , CM000664.2:g.127428635G>A	GRCh38
NC_000002.11:g.128186211G>A , CM000664.1:g.128186211G>A	GRCh37
NC_000002.10:g.127902681G>A	NCBI36
NG_016323.1:g.15216G>A , LRG_599:g.15216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1075G>A MANE Select	ENSP00000234071.4:p.Val359Ile
ENST00000234071.7:c.1075G>A	ENSP00000234071.3:p.Val359Ile
ENST00000402125.2:c.399G>A
ENST00000409048.1:c.1177G>A	ENSP00000386679.1:p.Val393Ile
NM_000312.3:c.1075G>A , LRG_599t1:c.1075G>A	NP_000303.1:p.Val359Ile
XM_005263715.3:c.1258G>A	XP_005263772.1:p.Val420Ile
XM_005263716.3:c.1240G>A	XP_005263773.1:p.Val414Ile
XM_005263717.3:c.1138G>A	XP_005263774.1:p.Val380Ile
XR_923313.1:n.1332-371C>T
XM_005263717.4:c.1138G>A	XP_005263774.1:p.Val380Ile
XM_017004505.1:c.1318G>A	XP_016859994.1:p.Val440Ile
XM_024453002.1:c.1420G>A	XP_024308770.1:p.Val474Ile
XM_024453003.1:c.1360G>A	XP_024308771.1:p.Val454Ile
XM_024453004.1:c.1258G>A	XP_024308772.1:p.Val420Ile
XM_024453005.1:c.1240G>A	XP_024308773.1:p.Val414Ile
XM_024453006.1:c.1177G>A	XP_024308774.1:p.Val393Ile
XR_001739705.1:n.3607-371C>T
XR_923313.2:n.4043-371C>T
NM_000312.4:c.1075G>A MANE Select	NP_000303.1:p.Val359Ile
NM_001375602.1:c.1258G>A	NP_001362531.1:p.Val420Ile
NM_001375603.1:c.1240G>A	NP_001362532.1:p.Val414Ile
NM_001375604.1:c.1138G>A	NP_001362533.1:p.Val380Ile
NM_001375605.1:c.1177G>A	NP_001362534.1:p.Val393Ile
NM_001375606.1:c.1243G>A	NP_001362535.1:p.Val415Ile
NM_001375607.1:c.1261G>A	NP_001362536.1:p.Val421Ile
NM_001375608.1:c.1018G>A	NP_001362537.1:p.Val340Ile
NM_001375609.1:c.1051G>A	NP_001362538.1:p.Val351Ile
NM_001375610.1:c.1069G>A	NP_001362539.1:p.Val357Ile
NM_001375611.1:c.1075G>A	NP_001362540.1:p.Val359Ile
NM_001375613.1:c.1075G>A	NP_001362542.1:p.Val359Ile