Canonical Allele Identifier: CA348406419

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186380T>A (hg19) ; chr2:g.127428804T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428804T>A , CM000664.2:g.127428804T>A	GRCh38
NC_000002.11:g.128186380T>A , CM000664.1:g.128186380T>A	GRCh37
NC_000002.10:g.127902850T>A	NCBI36
NG_016323.1:g.15385T>A , LRG_599:g.15385T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1244T>A MANE Select	ENSP00000234071.4:p.Phe415Tyr
ENST00000234071.7:c.1244T>A	ENSP00000234071.3:p.Phe415Tyr
ENST00000402125.2:c.568T>A
ENST00000409048.1:c.1346T>A	ENSP00000386679.1:p.Phe449Tyr
NM_000312.3:c.1244T>A , LRG_599t1:c.1244T>A	NP_000303.1:p.Phe415Tyr
XM_005263715.3:c.1427T>A	XP_005263772.1:p.Phe476Tyr
XM_005263716.3:c.1409T>A	XP_005263773.1:p.Phe470Tyr
XM_005263717.3:c.1307T>A	XP_005263774.1:p.Phe436Tyr
XR_923313.1:n.1332-540A>T
XM_005263717.4:c.1307T>A	XP_005263774.1:p.Phe436Tyr
XM_017004505.1:c.1487T>A	XP_016859994.1:p.Phe496Tyr
XM_024453002.1:c.1589T>A	XP_024308770.1:p.Phe530Tyr
XM_024453003.1:c.1529T>A	XP_024308771.1:p.Phe510Tyr
XM_024453004.1:c.1427T>A	XP_024308772.1:p.Phe476Tyr
XM_024453005.1:c.1409T>A	XP_024308773.1:p.Phe470Tyr
XM_024453006.1:c.1346T>A	XP_024308774.1:p.Phe449Tyr
XR_001739705.1:n.3607-540A>T
XR_923313.2:n.4043-540A>T
NM_000312.4:c.1244T>A MANE Select	NP_000303.1:p.Phe415Tyr
NM_001375602.1:c.1427T>A	NP_001362531.1:p.Phe476Tyr
NM_001375603.1:c.1409T>A	NP_001362532.1:p.Phe470Tyr
NM_001375604.1:c.1307T>A	NP_001362533.1:p.Phe436Tyr
NM_001375605.1:c.1346T>A	NP_001362534.1:p.Phe449Tyr
NM_001375606.1:c.1412T>A	NP_001362535.1:p.Phe471Tyr
NM_001375607.1:c.1430T>A	NP_001362536.1:p.Phe477Tyr
NM_001375608.1:c.1187T>A	NP_001362537.1:p.Phe396Tyr
NM_001375609.1:c.1220T>A	NP_001362538.1:p.Phe407Tyr
NM_001375610.1:c.1238T>A	NP_001362539.1:p.Phe413Tyr
NM_001375611.1:c.1244T>A	NP_001362540.1:p.Phe415Tyr
NM_001375613.1:c.1244T>A	NP_001362542.1:p.Phe415Tyr