Canonical Allele Identifier: CA348405427

Gene: PROC

Linked Data

• gnomAD v4: 2-127428572-C-G
• MyVariant Identifiers: chr2:g.128186148C>G (hg19) ; chr2:g.127428572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428572C>G , CM000664.2:g.127428572C>G	GRCh38
NC_000002.11:g.128186148C>G , CM000664.1:g.128186148C>G	GRCh37
NC_000002.10:g.127902618C>G	NCBI36
NG_016323.1:g.15153C>G , LRG_599:g.15153C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1012C>G MANE Select	ENSP00000234071.4:p.Leu338Val
ENST00000234071.7:c.1012C>G	ENSP00000234071.3:p.Leu338Val
ENST00000402125.2:c.336C>G
ENST00000409048.1:c.1114C>G	ENSP00000386679.1:p.Leu372Val
NM_000312.3:c.1012C>G , LRG_599t1:c.1012C>G	NP_000303.1:p.Leu338Val
XM_005263715.3:c.1195C>G	XP_005263772.1:p.Leu399Val
XM_005263716.3:c.1177C>G	XP_005263773.1:p.Leu393Val
XM_005263717.3:c.1075C>G	XP_005263774.1:p.Leu359Val
XR_923313.1:n.1332-308G>C
XM_005263717.4:c.1075C>G	XP_005263774.1:p.Leu359Val
XM_017004505.1:c.1255C>G	XP_016859994.1:p.Leu419Val
XM_024453002.1:c.1357C>G	XP_024308770.1:p.Leu453Val
XM_024453003.1:c.1297C>G	XP_024308771.1:p.Leu433Val
XM_024453004.1:c.1195C>G	XP_024308772.1:p.Leu399Val
XM_024453005.1:c.1177C>G	XP_024308773.1:p.Leu393Val
XM_024453006.1:c.1114C>G	XP_024308774.1:p.Leu372Val
XR_001739705.1:n.3607-308G>C
XR_923313.2:n.4043-308G>C
NM_000312.4:c.1012C>G MANE Select	NP_000303.1:p.Leu338Val
NM_001375602.1:c.1195C>G	NP_001362531.1:p.Leu399Val
NM_001375603.1:c.1177C>G	NP_001362532.1:p.Leu393Val
NM_001375604.1:c.1075C>G	NP_001362533.1:p.Leu359Val
NM_001375605.1:c.1114C>G	NP_001362534.1:p.Leu372Val
NM_001375606.1:c.1180C>G	NP_001362535.1:p.Leu394Val
NM_001375607.1:c.1198C>G	NP_001362536.1:p.Leu400Val
NM_001375608.1:c.955C>G	NP_001362537.1:p.Leu319Val
NM_001375609.1:c.988C>G	NP_001362538.1:p.Leu330Val
NM_001375610.1:c.1006C>G	NP_001362539.1:p.Leu336Val
NM_001375611.1:c.1012C>G	NP_001362540.1:p.Leu338Val
NM_001375613.1:c.1012C>G	NP_001362542.1:p.Leu338Val