Canonical Allele Identifier: CA348404358

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185966A>C (hg19) ; chr2:g.127428390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428390A>C , CM000664.2:g.127428390A>C	GRCh38
NC_000002.11:g.128185966A>C , CM000664.1:g.128185966A>C	GRCh37
NC_000002.10:g.127902436A>C	NCBI36
NG_016323.1:g.14971A>C , LRG_599:g.14971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.830A>C MANE Select	ENSP00000234071.4:p.Glu277Ala
ENST00000234071.7:c.830A>C	ENSP00000234071.3:p.Glu277Ala
ENST00000402125.2:c.154A>C
ENST00000409048.1:c.932A>C	ENSP00000386679.1:p.Glu311Ala
NM_000312.3:c.830A>C , LRG_599t1:c.830A>C	NP_000303.1:p.Glu277Ala
XM_005263715.3:c.1013A>C	XP_005263772.1:p.Glu338Ala
XM_005263716.3:c.995A>C	XP_005263773.1:p.Glu332Ala
XM_005263717.3:c.893A>C	XP_005263774.1:p.Glu298Ala
XR_923313.1:n.1332-126T>G
XM_005263717.4:c.893A>C	XP_005263774.1:p.Glu298Ala
XM_017004505.1:c.1073A>C	XP_016859994.1:p.Glu358Ala
XM_024453002.1:c.1175A>C	XP_024308770.1:p.Glu392Ala
XM_024453003.1:c.1115A>C	XP_024308771.1:p.Glu372Ala
XM_024453004.1:c.1013A>C	XP_024308772.1:p.Glu338Ala
XM_024453005.1:c.995A>C	XP_024308773.1:p.Glu332Ala
XM_024453006.1:c.932A>C	XP_024308774.1:p.Glu311Ala
XR_001739705.1:n.3607-126T>G
XR_923313.2:n.4043-126T>G
NM_000312.4:c.830A>C MANE Select	NP_000303.1:p.Glu277Ala
NM_001375602.1:c.1013A>C	NP_001362531.1:p.Glu338Ala
NM_001375603.1:c.995A>C	NP_001362532.1:p.Glu332Ala
NM_001375604.1:c.893A>C	NP_001362533.1:p.Glu298Ala
NM_001375605.1:c.932A>C	NP_001362534.1:p.Glu311Ala
NM_001375606.1:c.998A>C	NP_001362535.1:p.Glu333Ala
NM_001375607.1:c.1016A>C	NP_001362536.1:p.Glu339Ala
NM_001375608.1:c.773A>C	NP_001362537.1:p.Glu258Ala
NM_001375609.1:c.806A>C	NP_001362538.1:p.Glu269Ala
NM_001375610.1:c.824A>C	NP_001362539.1:p.Glu275Ala
NM_001375611.1:c.830A>C	NP_001362540.1:p.Glu277Ala
NM_001375613.1:c.830A>C	NP_001362542.1:p.Glu277Ala