Canonical Allele Identifier: CA348405319

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186134C>A (hg19) ; chr2:g.127428558C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.998C>A MANE Select	ENSP00000234071.4:p.Ala333Asp
ENST00000234071.7:c.998C>A	ENSP00000234071.3:p.Ala333Asp
ENST00000402125.2:c.322C>A
ENST00000409048.1:c.1100C>A	ENSP00000386679.1:p.Ala367Asp
NM_000312.3:c.998C>A , LRG_599t1:c.998C>A	NP_000303.1:p.Ala333Asp
XM_005263715.3:c.1181C>A	XP_005263772.1:p.Ala394Asp
XM_005263716.3:c.1163C>A	XP_005263773.1:p.Ala388Asp
XM_005263717.3:c.1061C>A	XP_005263774.1:p.Ala354Asp
XR_923313.1:n.1332-294G>T
XM_005263717.4:c.1061C>A	XP_005263774.1:p.Ala354Asp
XM_017004505.1:c.1241C>A	XP_016859994.1:p.Ala414Asp
XM_024453002.1:c.1343C>A	XP_024308770.1:p.Ala448Asp
XM_024453003.1:c.1283C>A	XP_024308771.1:p.Ala428Asp
XM_024453004.1:c.1181C>A	XP_024308772.1:p.Ala394Asp
XM_024453005.1:c.1163C>A	XP_024308773.1:p.Ala388Asp
XM_024453006.1:c.1100C>A	XP_024308774.1:p.Ala367Asp
XR_001739705.1:n.3607-294G>T
XR_923313.2:n.4043-294G>T
NM_000312.4:c.998C>A MANE Select	NP_000303.1:p.Ala333Asp
NM_001375602.1:c.1181C>A	NP_001362531.1:p.Ala394Asp
NM_001375603.1:c.1163C>A	NP_001362532.1:p.Ala388Asp
NM_001375604.1:c.1061C>A	NP_001362533.1:p.Ala354Asp
NM_001375605.1:c.1100C>A	NP_001362534.1:p.Ala367Asp
NM_001375606.1:c.1166C>A	NP_001362535.1:p.Ala389Asp
NM_001375607.1:c.1184C>A	NP_001362536.1:p.Ala395Asp
NM_001375608.1:c.941C>A	NP_001362537.1:p.Ala314Asp
NM_001375609.1:c.974C>A	NP_001362538.1:p.Ala325Asp
NM_001375610.1:c.992C>A	NP_001362539.1:p.Ala331Asp
NM_001375611.1:c.998C>A	NP_001362540.1:p.Ala333Asp
NM_001375613.1:c.998C>A	NP_001362542.1:p.Ala333Asp