Canonical Allele Identifier: CA348406680

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186466T>A (hg19) ; chr2:g.127428890T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428890T>A , CM000664.2:g.127428890T>A	GRCh38
NC_000002.11:g.128186466T>A , CM000664.1:g.128186466T>A	GRCh37
NC_000002.10:g.127902936T>A	NCBI36
NG_016323.1:g.15471T>A , LRG_599:g.15471T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1330T>A MANE Select	ENSP00000234071.4:p.Trp444Arg
ENST00000234071.7:c.1330T>A	ENSP00000234071.3:p.Trp444Arg
ENST00000402125.2:c.654T>A
ENST00000409048.1:c.1432T>A	ENSP00000386679.1:p.Trp478Arg
NM_000312.3:c.1330T>A , LRG_599t1:c.1330T>A	NP_000303.1:p.Trp444Arg
XM_005263715.3:c.1513T>A	XP_005263772.1:p.Trp505Arg
XM_005263716.3:c.1495T>A	XP_005263773.1:p.Trp499Arg
XM_005263717.3:c.1393T>A	XP_005263774.1:p.Trp465Arg
XR_923313.1:n.1332-626A>T
XM_005263717.4:c.1393T>A	XP_005263774.1:p.Trp465Arg
XM_017004505.1:c.1573T>A	XP_016859994.1:p.Trp525Arg
XM_024453002.1:c.1675T>A	XP_024308770.1:p.Trp559Arg
XM_024453003.1:c.1615T>A	XP_024308771.1:p.Trp539Arg
XM_024453004.1:c.1513T>A	XP_024308772.1:p.Trp505Arg
XM_024453005.1:c.1495T>A	XP_024308773.1:p.Trp499Arg
XM_024453006.1:c.1432T>A	XP_024308774.1:p.Trp478Arg
XR_001739705.1:n.3607-626A>T
XR_923313.2:n.4043-626A>T
NM_000312.4:c.1330T>A MANE Select	NP_000303.1:p.Trp444Arg
NM_001375602.1:c.1513T>A	NP_001362531.1:p.Trp505Arg
NM_001375603.1:c.1495T>A	NP_001362532.1:p.Trp499Arg
NM_001375604.1:c.1393T>A	NP_001362533.1:p.Trp465Arg
NM_001375605.1:c.1432T>A	NP_001362534.1:p.Trp478Arg
NM_001375606.1:c.1498T>A	NP_001362535.1:p.Trp500Arg
NM_001375607.1:c.1516T>A	NP_001362536.1:p.Trp506Arg
NM_001375608.1:c.1273T>A	NP_001362537.1:p.Trp425Arg
NM_001375609.1:c.1306T>A	NP_001362538.1:p.Trp436Arg
NM_001375610.1:c.1324T>A	NP_001362539.1:p.Trp442Arg
NM_001375611.1:c.1330T>A	NP_001362540.1:p.Trp444Arg
NM_001375613.1:c.1330T>A	NP_001362542.1:p.Trp444Arg