Canonical Allele Identifier: CA348406559

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186413G>C (hg19) ; chr2:g.127428837G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428837G>C , CM000664.2:g.127428837G>C	GRCh38
NC_000002.11:g.128186413G>C , CM000664.1:g.128186413G>C	GRCh37
NC_000002.10:g.127902883G>C	NCBI36
NG_016323.1:g.15418G>C , LRG_599:g.15418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1277G>C MANE Select	ENSP00000234071.4:p.Cys426Ser
ENST00000234071.7:c.1277G>C	ENSP00000234071.3:p.Cys426Ser
ENST00000402125.2:c.601G>C
ENST00000409048.1:c.1379G>C	ENSP00000386679.1:p.Cys460Ser
NM_000312.3:c.1277G>C , LRG_599t1:c.1277G>C	NP_000303.1:p.Cys426Ser
XM_005263715.3:c.1460G>C	XP_005263772.1:p.Cys487Ser
XM_005263716.3:c.1442G>C	XP_005263773.1:p.Cys481Ser
XM_005263717.3:c.1340G>C	XP_005263774.1:p.Cys447Ser
XR_923313.1:n.1332-573C>G
XM_005263717.4:c.1340G>C	XP_005263774.1:p.Cys447Ser
XM_017004505.1:c.1520G>C	XP_016859994.1:p.Cys507Ser
XM_024453002.1:c.1622G>C	XP_024308770.1:p.Cys541Ser
XM_024453003.1:c.1562G>C	XP_024308771.1:p.Cys521Ser
XM_024453004.1:c.1460G>C	XP_024308772.1:p.Cys487Ser
XM_024453005.1:c.1442G>C	XP_024308773.1:p.Cys481Ser
XM_024453006.1:c.1379G>C	XP_024308774.1:p.Cys460Ser
XR_001739705.1:n.3607-573C>G
XR_923313.2:n.4043-573C>G
NM_000312.4:c.1277G>C MANE Select	NP_000303.1:p.Cys426Ser
NM_001375602.1:c.1460G>C	NP_001362531.1:p.Cys487Ser
NM_001375603.1:c.1442G>C	NP_001362532.1:p.Cys481Ser
NM_001375604.1:c.1340G>C	NP_001362533.1:p.Cys447Ser
NM_001375605.1:c.1379G>C	NP_001362534.1:p.Cys460Ser
NM_001375606.1:c.1445G>C	NP_001362535.1:p.Cys482Ser
NM_001375607.1:c.1463G>C	NP_001362536.1:p.Cys488Ser
NM_001375608.1:c.1220G>C	NP_001362537.1:p.Cys407Ser
NM_001375609.1:c.1253G>C	NP_001362538.1:p.Cys418Ser
NM_001375610.1:c.1271G>C	NP_001362539.1:p.Cys424Ser
NM_001375611.1:c.1277G>C	NP_001362540.1:p.Cys426Ser
NM_001375613.1:c.1277G>C	NP_001362542.1:p.Cys426Ser