Canonical Allele Identifier: CA114416

Gene: PROC

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426227G>C , CM000664.2:g.127426227G>C	GRCh38
NC_000002.11:g.128183803G>C , CM000664.1:g.128183803G>C	GRCh37
NC_000002.10:g.127900273G>C	NCBI36
NG_016323.1:g.12808G>C , LRG_599:g.12808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.678G>C MANE Select	ENSP00000234071.4:p.Gln226His
ENST00000234071.7:c.678G>C	ENSP00000234071.3:p.Gln226His
ENST00000402125.2:c.121-2130G>C
ENST00000409048.1:c.780G>C	ENSP00000386679.1:p.Gln260His
ENST00000464089.1:n.264G>C
NM_000312.3:c.678G>C , LRG_599t1:c.678G>C	NP_000303.1:p.Gln226His
XM_005263715.3:c.861G>C	XP_005263772.1:p.Gln287His
XM_005263716.3:c.843G>C	XP_005263773.1:p.Gln281His
XM_005263717.3:c.741G>C	XP_005263774.1:p.Gln247His
XM_005263717.4:c.741G>C	XP_005263774.1:p.Gln247His
XM_017004505.1:c.921G>C	XP_016859994.1:p.Gln307His
XM_024453002.1:c.1023G>C	XP_024308770.1:p.Gln341His
XM_024453003.1:c.963G>C	XP_024308771.1:p.Gln321His
XM_024453004.1:c.861G>C	XP_024308772.1:p.Gln287His
XM_024453005.1:c.843G>C	XP_024308773.1:p.Gln281His
XM_024453006.1:c.780G>C	XP_024308774.1:p.Gln260His
XR_923313.2:n.4358C>G
NM_000312.4:c.678G>C MANE Select	NP_000303.1:p.Gln226His
NM_001375602.1:c.861G>C	NP_001362531.1:p.Gln287His
NM_001375603.1:c.843G>C	NP_001362532.1:p.Gln281His
NM_001375604.1:c.741G>C	NP_001362533.1:p.Gln247His
NM_001375605.1:c.780G>C	NP_001362534.1:p.Gln260His
NM_001375606.1:c.846G>C	NP_001362535.1:p.Gln282His
NM_001375607.1:c.864G>C	NP_001362536.1:p.Gln288His
NM_001375608.1:c.621G>C	NP_001362537.1:p.Gln207His
NM_001375609.1:c.654G>C	NP_001362538.1:p.Gln218His
NM_001375610.1:c.672G>C	NP_001362539.1:p.Gln224His
NM_001375611.1:c.678G>C	NP_001362540.1:p.Gln226His
NM_001375613.1:c.678G>C	NP_001362542.1:p.Gln226His