Canonical Allele Identifier: CA348405325

Gene: PROC

Linked Data

• gnomAD v4: 2-127428558-C-T
• MyVariant Identifiers: chr2:g.128186134C>T (hg19) ; chr2:g.127428558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428558C>T , CM000664.2:g.127428558C>T	GRCh38
NC_000002.11:g.128186134C>T , CM000664.1:g.128186134C>T	GRCh37
NC_000002.10:g.127902604C>T	NCBI36
NG_016323.1:g.15139C>T , LRG_599:g.15139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.998C>T MANE Select	ENSP00000234071.4:p.Ala333Val
ENST00000234071.7:c.998C>T	ENSP00000234071.3:p.Ala333Val
ENST00000402125.2:c.322C>T
ENST00000409048.1:c.1100C>T	ENSP00000386679.1:p.Ala367Val
NM_000312.3:c.998C>T , LRG_599t1:c.998C>T	NP_000303.1:p.Ala333Val
XM_005263715.3:c.1181C>T	XP_005263772.1:p.Ala394Val
XM_005263716.3:c.1163C>T	XP_005263773.1:p.Ala388Val
XM_005263717.3:c.1061C>T	XP_005263774.1:p.Ala354Val
XR_923313.1:n.1332-294G>A
XM_005263717.4:c.1061C>T	XP_005263774.1:p.Ala354Val
XM_017004505.1:c.1241C>T	XP_016859994.1:p.Ala414Val
XM_024453002.1:c.1343C>T	XP_024308770.1:p.Ala448Val
XM_024453003.1:c.1283C>T	XP_024308771.1:p.Ala428Val
XM_024453004.1:c.1181C>T	XP_024308772.1:p.Ala394Val
XM_024453005.1:c.1163C>T	XP_024308773.1:p.Ala388Val
XM_024453006.1:c.1100C>T	XP_024308774.1:p.Ala367Val
XR_001739705.1:n.3607-294G>A
XR_923313.2:n.4043-294G>A
NM_000312.4:c.998C>T MANE Select	NP_000303.1:p.Ala333Val
NM_001375602.1:c.1181C>T	NP_001362531.1:p.Ala394Val
NM_001375603.1:c.1163C>T	NP_001362532.1:p.Ala388Val
NM_001375604.1:c.1061C>T	NP_001362533.1:p.Ala354Val
NM_001375605.1:c.1100C>T	NP_001362534.1:p.Ala367Val
NM_001375606.1:c.1166C>T	NP_001362535.1:p.Ala389Val
NM_001375607.1:c.1184C>T	NP_001362536.1:p.Ala395Val
NM_001375608.1:c.941C>T	NP_001362537.1:p.Ala314Val
NM_001375609.1:c.974C>T	NP_001362538.1:p.Ala325Val
NM_001375610.1:c.992C>T	NP_001362539.1:p.Ala331Val
NM_001375611.1:c.998C>T	NP_001362540.1:p.Ala333Val
NM_001375613.1:c.998C>T	NP_001362542.1:p.Ala333Val