Canonical Allele Identifier: CA348406457

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186389G>C (hg19) ; chr2:g.127428813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428813G>C , CM000664.2:g.127428813G>C	GRCh38
NC_000002.11:g.128186389G>C , CM000664.1:g.128186389G>C	GRCh37
NC_000002.10:g.127902859G>C	NCBI36
NG_016323.1:g.15394G>C , LRG_599:g.15394G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1253G>C MANE Select	ENSP00000234071.4:p.Gly418Ala
ENST00000234071.7:c.1253G>C	ENSP00000234071.3:p.Gly418Ala
ENST00000402125.2:c.577G>C
ENST00000409048.1:c.1355G>C	ENSP00000386679.1:p.Gly452Ala
NM_000312.3:c.1253G>C , LRG_599t1:c.1253G>C	NP_000303.1:p.Gly418Ala
XM_005263715.3:c.1436G>C	XP_005263772.1:p.Gly479Ala
XM_005263716.3:c.1418G>C	XP_005263773.1:p.Gly473Ala
XM_005263717.3:c.1316G>C	XP_005263774.1:p.Gly439Ala
XR_923313.1:n.1332-549C>G
XM_005263717.4:c.1316G>C	XP_005263774.1:p.Gly439Ala
XM_017004505.1:c.1496G>C	XP_016859994.1:p.Gly499Ala
XM_024453002.1:c.1598G>C	XP_024308770.1:p.Gly533Ala
XM_024453003.1:c.1538G>C	XP_024308771.1:p.Gly513Ala
XM_024453004.1:c.1436G>C	XP_024308772.1:p.Gly479Ala
XM_024453005.1:c.1418G>C	XP_024308773.1:p.Gly473Ala
XM_024453006.1:c.1355G>C	XP_024308774.1:p.Gly452Ala
XR_001739705.1:n.3607-549C>G
XR_923313.2:n.4043-549C>G
NM_000312.4:c.1253G>C MANE Select	NP_000303.1:p.Gly418Ala
NM_001375602.1:c.1436G>C	NP_001362531.1:p.Gly479Ala
NM_001375603.1:c.1418G>C	NP_001362532.1:p.Gly473Ala
NM_001375604.1:c.1316G>C	NP_001362533.1:p.Gly439Ala
NM_001375605.1:c.1355G>C	NP_001362534.1:p.Gly452Ala
NM_001375606.1:c.1421G>C	NP_001362535.1:p.Gly474Ala
NM_001375607.1:c.1439G>C	NP_001362536.1:p.Gly480Ala
NM_001375608.1:c.1196G>C	NP_001362537.1:p.Gly399Ala
NM_001375609.1:c.1229G>C	NP_001362538.1:p.Gly410Ala
NM_001375610.1:c.1247G>C	NP_001362539.1:p.Gly416Ala
NM_001375611.1:c.1253G>C	NP_001362540.1:p.Gly418Ala
NM_001375613.1:c.1253G>C	NP_001362542.1:p.Gly418Ala