Canonical Allele Identifier: CA348401063

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183684T>A (hg19) ; chr2:g.127426108T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426108T>A , CM000664.2:g.127426108T>A	GRCh38
NC_000002.11:g.128183684T>A , CM000664.1:g.128183684T>A	GRCh37
NC_000002.10:g.127900154T>A	NCBI36
NG_016323.1:g.12689T>A , LRG_599:g.12689T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.559T>A MANE Select	ENSP00000234071.4:p.Trp187Arg
ENST00000234071.7:c.559T>A	ENSP00000234071.3:p.Trp187Arg
ENST00000402125.2:c.121-2249T>A
ENST00000409048.1:c.661T>A	ENSP00000386679.1:p.Trp221Arg
ENST00000442644.5:c.502T>A	ENSP00000411241.1:p.Trp168Arg
ENST00000464089.1:n.145T>A
NM_000312.3:c.559T>A , LRG_599t1:c.559T>A	NP_000303.1:p.Trp187Arg
XM_005263715.3:c.742T>A	XP_005263772.1:p.Trp248Arg
XM_005263716.3:c.724T>A	XP_005263773.1:p.Trp242Arg
XM_005263717.3:c.622T>A	XP_005263774.1:p.Trp208Arg
XM_005263717.4:c.622T>A	XP_005263774.1:p.Trp208Arg
XM_017004505.1:c.802T>A	XP_016859994.1:p.Trp268Arg
XM_024453002.1:c.904T>A	XP_024308770.1:p.Trp302Arg
XM_024453003.1:c.844T>A	XP_024308771.1:p.Trp282Arg
XM_024453004.1:c.742T>A	XP_024308772.1:p.Trp248Arg
XM_024453005.1:c.724T>A	XP_024308773.1:p.Trp242Arg
XM_024453006.1:c.661T>A	XP_024308774.1:p.Trp221Arg
XR_923313.2:n.4477A>T
NM_000312.4:c.559T>A MANE Select	NP_000303.1:p.Trp187Arg
NM_001375602.1:c.742T>A	NP_001362531.1:p.Trp248Arg
NM_001375603.1:c.724T>A	NP_001362532.1:p.Trp242Arg
NM_001375604.1:c.622T>A	NP_001362533.1:p.Trp208Arg
NM_001375605.1:c.661T>A	NP_001362534.1:p.Trp221Arg
NM_001375606.1:c.727T>A	NP_001362535.1:p.Trp243Arg
NM_001375607.1:c.745T>A	NP_001362536.1:p.Trp249Arg
NM_001375608.1:c.502T>A	NP_001362537.1:p.Trp168Arg
NM_001375609.1:c.535T>A	NP_001362538.1:p.Trp179Arg
NM_001375610.1:c.553T>A	NP_001362539.1:p.Trp185Arg
NM_001375611.1:c.559T>A	NP_001362540.1:p.Trp187Arg
NM_001375613.1:c.559T>A	NP_001362542.1:p.Trp187Arg