Canonical Allele Identifier: CA348406617

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186437T>C (hg19) ; chr2:g.127428861T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428861T>C , CM000664.2:g.127428861T>C	GRCh38
NC_000002.11:g.128186437T>C , CM000664.1:g.128186437T>C	GRCh37
NC_000002.10:g.127902907T>C	NCBI36
NG_016323.1:g.15442T>C , LRG_599:g.15442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1301T>C MANE Select	ENSP00000234071.4:p.Val434Ala
ENST00000234071.7:c.1301T>C	ENSP00000234071.3:p.Val434Ala
ENST00000402125.2:c.625T>C
ENST00000409048.1:c.1403T>C	ENSP00000386679.1:p.Val468Ala
NM_000312.3:c.1301T>C , LRG_599t1:c.1301T>C	NP_000303.1:p.Val434Ala
XM_005263715.3:c.1484T>C	XP_005263772.1:p.Val495Ala
XM_005263716.3:c.1466T>C	XP_005263773.1:p.Val489Ala
XM_005263717.3:c.1364T>C	XP_005263774.1:p.Val455Ala
XR_923313.1:n.1332-597A>G
XM_005263717.4:c.1364T>C	XP_005263774.1:p.Val455Ala
XM_017004505.1:c.1544T>C	XP_016859994.1:p.Val515Ala
XM_024453002.1:c.1646T>C	XP_024308770.1:p.Val549Ala
XM_024453003.1:c.1586T>C	XP_024308771.1:p.Val529Ala
XM_024453004.1:c.1484T>C	XP_024308772.1:p.Val495Ala
XM_024453005.1:c.1466T>C	XP_024308773.1:p.Val489Ala
XM_024453006.1:c.1403T>C	XP_024308774.1:p.Val468Ala
XR_001739705.1:n.3607-597A>G
XR_923313.2:n.4043-597A>G
NM_000312.4:c.1301T>C MANE Select	NP_000303.1:p.Val434Ala
NM_001375602.1:c.1484T>C	NP_001362531.1:p.Val495Ala
NM_001375603.1:c.1466T>C	NP_001362532.1:p.Val489Ala
NM_001375604.1:c.1364T>C	NP_001362533.1:p.Val455Ala
NM_001375605.1:c.1403T>C	NP_001362534.1:p.Val468Ala
NM_001375606.1:c.1469T>C	NP_001362535.1:p.Val490Ala
NM_001375607.1:c.1487T>C	NP_001362536.1:p.Val496Ala
NM_001375608.1:c.1244T>C	NP_001362537.1:p.Val415Ala
NM_001375609.1:c.1277T>C	NP_001362538.1:p.Val426Ala
NM_001375610.1:c.1295T>C	NP_001362539.1:p.Val432Ala
NM_001375611.1:c.1301T>C	NP_001362540.1:p.Val434Ala
NM_001375613.1:c.1301T>C	NP_001362542.1:p.Val434Ala