Canonical Allele Identifier: CA348406790

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186512G>A (hg19) ; chr2:g.127428936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428936G>A , CM000664.2:g.127428936G>A	GRCh38
NC_000002.11:g.128186512G>A , CM000664.1:g.128186512G>A	GRCh37
NC_000002.10:g.127902982G>A	NCBI36
NG_016323.1:g.15517G>A , LRG_599:g.15517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1376G>A MANE Select	ENSP00000234071.4:p.Trp459Ter
ENST00000234071.7:c.1376G>A	ENSP00000234071.3:p.Trp459Ter
ENST00000402125.2:c.700G>A
ENST00000409048.1:c.1478G>A	ENSP00000386679.1:p.Trp493Ter
NM_000312.3:c.1376G>A , LRG_599t1:c.1376G>A	NP_000303.1:p.Trp459Ter
XM_005263715.3:c.1559G>A	XP_005263772.1:p.Trp520Ter
XM_005263716.3:c.1541G>A	XP_005263773.1:p.Trp514Ter
XM_005263717.3:c.1439G>A	XP_005263774.1:p.Trp480Ter
XR_923313.1:n.1332-672C>T
XM_005263717.4:c.1439G>A	XP_005263774.1:p.Trp480Ter
XM_017004505.1:c.1619G>A	XP_016859994.1:p.Trp540Ter
XM_024453002.1:c.1721G>A	XP_024308770.1:p.Trp574Ter
XM_024453003.1:c.1661G>A	XP_024308771.1:p.Trp554Ter
XM_024453004.1:c.1559G>A	XP_024308772.1:p.Trp520Ter
XM_024453005.1:c.1541G>A	XP_024308773.1:p.Trp514Ter
XM_024453006.1:c.1478G>A	XP_024308774.1:p.Trp493Ter
XR_001739705.1:n.3607-672C>T
XR_923313.2:n.4043-672C>T
NM_000312.4:c.1376G>A MANE Select	NP_000303.1:p.Trp459Ter
NM_001375602.1:c.1559G>A	NP_001362531.1:p.Trp520Ter
NM_001375603.1:c.1541G>A	NP_001362532.1:p.Trp514Ter
NM_001375604.1:c.1439G>A	NP_001362533.1:p.Trp480Ter
NM_001375605.1:c.1478G>A	NP_001362534.1:p.Trp493Ter
NM_001375606.1:c.1544G>A	NP_001362535.1:p.Trp515Ter
NM_001375607.1:c.1562G>A	NP_001362536.1:p.Trp521Ter
NM_001375608.1:c.1319G>A	NP_001362537.1:p.Trp440Ter
NM_001375609.1:c.1352G>A	NP_001362538.1:p.Trp451Ter
NM_001375610.1:c.1370G>A	NP_001362539.1:p.Trp457Ter
NM_001375611.1:c.1376G>A	NP_001362540.1:p.Trp459Ter
NM_001375613.1:c.1376G>A	NP_001362542.1:p.Trp459Ter