Canonical Allele Identifier: CA348406495

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186400T>A (hg19) ; chr2:g.127428824T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428824T>A , CM000664.2:g.127428824T>A	GRCh38
NC_000002.11:g.128186400T>A , CM000664.1:g.128186400T>A	GRCh37
NC_000002.10:g.127902870T>A	NCBI36
NG_016323.1:g.15405T>A , LRG_599:g.15405T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1264T>A MANE Select	ENSP00000234071.4:p.Trp422Arg
ENST00000234071.7:c.1264T>A	ENSP00000234071.3:p.Trp422Arg
ENST00000402125.2:c.588T>A
ENST00000409048.1:c.1366T>A	ENSP00000386679.1:p.Trp456Arg
NM_000312.3:c.1264T>A , LRG_599t1:c.1264T>A	NP_000303.1:p.Trp422Arg
XM_005263715.3:c.1447T>A	XP_005263772.1:p.Trp483Arg
XM_005263716.3:c.1429T>A	XP_005263773.1:p.Trp477Arg
XM_005263717.3:c.1327T>A	XP_005263774.1:p.Trp443Arg
XR_923313.1:n.1332-560A>T
XM_005263717.4:c.1327T>A	XP_005263774.1:p.Trp443Arg
XM_017004505.1:c.1507T>A	XP_016859994.1:p.Trp503Arg
XM_024453002.1:c.1609T>A	XP_024308770.1:p.Trp537Arg
XM_024453003.1:c.1549T>A	XP_024308771.1:p.Trp517Arg
XM_024453004.1:c.1447T>A	XP_024308772.1:p.Trp483Arg
XM_024453005.1:c.1429T>A	XP_024308773.1:p.Trp477Arg
XM_024453006.1:c.1366T>A	XP_024308774.1:p.Trp456Arg
XR_001739705.1:n.3607-560A>T
XR_923313.2:n.4043-560A>T
NM_000312.4:c.1264T>A MANE Select	NP_000303.1:p.Trp422Arg
NM_001375602.1:c.1447T>A	NP_001362531.1:p.Trp483Arg
NM_001375603.1:c.1429T>A	NP_001362532.1:p.Trp477Arg
NM_001375604.1:c.1327T>A	NP_001362533.1:p.Trp443Arg
NM_001375605.1:c.1366T>A	NP_001362534.1:p.Trp456Arg
NM_001375606.1:c.1432T>A	NP_001362535.1:p.Trp478Arg
NM_001375607.1:c.1450T>A	NP_001362536.1:p.Trp484Arg
NM_001375608.1:c.1207T>A	NP_001362537.1:p.Trp403Arg
NM_001375609.1:c.1240T>A	NP_001362538.1:p.Trp414Arg
NM_001375610.1:c.1258T>A	NP_001362539.1:p.Trp420Arg
NM_001375611.1:c.1264T>A	NP_001362540.1:p.Trp422Arg
NM_001375613.1:c.1264T>A	NP_001362542.1:p.Trp422Arg