Canonical Allele Identifier: CA348405775

Gene: PROC

Linked Data

• dbSNP Id: rs1688686475
• MyVariant Identifiers: chr2:g.128186232C>A (hg19) ; chr2:g.127428656C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428656C>A , CM000664.2:g.127428656C>A	GRCh38
NC_000002.11:g.128186232C>A , CM000664.1:g.128186232C>A	GRCh37
NC_000002.10:g.127902702C>A	NCBI36
NG_016323.1:g.15237C>A , LRG_599:g.15237C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1096C>A MANE Select	ENSP00000234071.4:p.Pro366Thr
ENST00000234071.7:c.1096C>A	ENSP00000234071.3:p.Pro366Thr
ENST00000402125.2:c.420C>A
ENST00000409048.1:c.1198C>A	ENSP00000386679.1:p.Pro400Thr
NM_000312.3:c.1096C>A , LRG_599t1:c.1096C>A	NP_000303.1:p.Pro366Thr
XM_005263715.3:c.1279C>A	XP_005263772.1:p.Pro427Thr
XM_005263716.3:c.1261C>A	XP_005263773.1:p.Pro421Thr
XM_005263717.3:c.1159C>A	XP_005263774.1:p.Pro387Thr
XR_923313.1:n.1332-392G>T
XM_005263717.4:c.1159C>A	XP_005263774.1:p.Pro387Thr
XM_017004505.1:c.1339C>A	XP_016859994.1:p.Pro447Thr
XM_024453002.1:c.1441C>A	XP_024308770.1:p.Pro481Thr
XM_024453003.1:c.1381C>A	XP_024308771.1:p.Pro461Thr
XM_024453004.1:c.1279C>A	XP_024308772.1:p.Pro427Thr
XM_024453005.1:c.1261C>A	XP_024308773.1:p.Pro421Thr
XM_024453006.1:c.1198C>A	XP_024308774.1:p.Pro400Thr
XR_001739705.1:n.3607-392G>T
XR_923313.2:n.4043-392G>T
NM_000312.4:c.1096C>A MANE Select	NP_000303.1:p.Pro366Thr
NM_001375602.1:c.1279C>A	NP_001362531.1:p.Pro427Thr
NM_001375603.1:c.1261C>A	NP_001362532.1:p.Pro421Thr
NM_001375604.1:c.1159C>A	NP_001362533.1:p.Pro387Thr
NM_001375605.1:c.1198C>A	NP_001362534.1:p.Pro400Thr
NM_001375606.1:c.1264C>A	NP_001362535.1:p.Pro422Thr
NM_001375607.1:c.1282C>A	NP_001362536.1:p.Pro428Thr
NM_001375608.1:c.1039C>A	NP_001362537.1:p.Pro347Thr
NM_001375609.1:c.1072C>A	NP_001362538.1:p.Pro358Thr
NM_001375610.1:c.1090C>A	NP_001362539.1:p.Pro364Thr
NM_001375611.1:c.1096C>A	NP_001362540.1:p.Pro366Thr
NM_001375613.1:c.1096C>A	NP_001362542.1:p.Pro366Thr