Canonical Allele Identifier: CA348405658

Gene: PROC

Linked Data

• dbSNP Id: rs1688683630
• MyVariant Identifiers: chr2:g.128186188A>C (hg19) ; chr2:g.127428612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428612A>C , CM000664.2:g.127428612A>C	GRCh38
NC_000002.11:g.128186188A>C , CM000664.1:g.128186188A>C	GRCh37
NC_000002.10:g.127902658A>C	NCBI36
NG_016323.1:g.15193A>C , LRG_599:g.15193A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1052A>C MANE Select	ENSP00000234071.4:p.Glu351Ala
ENST00000234071.7:c.1052A>C	ENSP00000234071.3:p.Glu351Ala
ENST00000402125.2:c.376A>C
ENST00000409048.1:c.1154A>C	ENSP00000386679.1:p.Glu385Ala
NM_000312.3:c.1052A>C , LRG_599t1:c.1052A>C	NP_000303.1:p.Glu351Ala
XM_005263715.3:c.1235A>C	XP_005263772.1:p.Glu412Ala
XM_005263716.3:c.1217A>C	XP_005263773.1:p.Glu406Ala
XM_005263717.3:c.1115A>C	XP_005263774.1:p.Glu372Ala
XR_923313.1:n.1332-348T>G
XM_005263717.4:c.1115A>C	XP_005263774.1:p.Glu372Ala
XM_017004505.1:c.1295A>C	XP_016859994.1:p.Glu432Ala
XM_024453002.1:c.1397A>C	XP_024308770.1:p.Glu466Ala
XM_024453003.1:c.1337A>C	XP_024308771.1:p.Glu446Ala
XM_024453004.1:c.1235A>C	XP_024308772.1:p.Glu412Ala
XM_024453005.1:c.1217A>C	XP_024308773.1:p.Glu406Ala
XM_024453006.1:c.1154A>C	XP_024308774.1:p.Glu385Ala
XR_001739705.1:n.3607-348T>G
XR_923313.2:n.4043-348T>G
NM_000312.4:c.1052A>C MANE Select	NP_000303.1:p.Glu351Ala
NM_001375602.1:c.1235A>C	NP_001362531.1:p.Glu412Ala
NM_001375603.1:c.1217A>C	NP_001362532.1:p.Glu406Ala
NM_001375604.1:c.1115A>C	NP_001362533.1:p.Glu372Ala
NM_001375605.1:c.1154A>C	NP_001362534.1:p.Glu385Ala
NM_001375606.1:c.1220A>C	NP_001362535.1:p.Glu407Ala
NM_001375607.1:c.1238A>C	NP_001362536.1:p.Glu413Ala
NM_001375608.1:c.995A>C	NP_001362537.1:p.Glu332Ala
NM_001375609.1:c.1028A>C	NP_001362538.1:p.Glu343Ala
NM_001375610.1:c.1046A>C	NP_001362539.1:p.Glu349Ala
NM_001375611.1:c.1052A>C	NP_001362540.1:p.Glu351Ala
NM_001375613.1:c.1052A>C	NP_001362542.1:p.Glu351Ala