Canonical Allele Identifier: CA348405624

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186181G>A (hg19) ; chr2:g.127428605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428605G>A , CM000664.2:g.127428605G>A	GRCh38
NC_000002.11:g.128186181G>A , CM000664.1:g.128186181G>A	GRCh37
NC_000002.10:g.127902651G>A	NCBI36
NG_016323.1:g.15186G>A , LRG_599:g.15186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1045G>A MANE Select	ENSP00000234071.4:p.Glu349Lys
ENST00000234071.7:c.1045G>A	ENSP00000234071.3:p.Glu349Lys
ENST00000402125.2:c.369G>A
ENST00000409048.1:c.1147G>A	ENSP00000386679.1:p.Glu383Lys
NM_000312.3:c.1045G>A , LRG_599t1:c.1045G>A	NP_000303.1:p.Glu349Lys
XM_005263715.3:c.1228G>A	XP_005263772.1:p.Glu410Lys
XM_005263716.3:c.1210G>A	XP_005263773.1:p.Glu404Lys
XM_005263717.3:c.1108G>A	XP_005263774.1:p.Glu370Lys
XR_923313.1:n.1332-341C>T
XM_005263717.4:c.1108G>A	XP_005263774.1:p.Glu370Lys
XM_017004505.1:c.1288G>A	XP_016859994.1:p.Glu430Lys
XM_024453002.1:c.1390G>A	XP_024308770.1:p.Glu464Lys
XM_024453003.1:c.1330G>A	XP_024308771.1:p.Glu444Lys
XM_024453004.1:c.1228G>A	XP_024308772.1:p.Glu410Lys
XM_024453005.1:c.1210G>A	XP_024308773.1:p.Glu404Lys
XM_024453006.1:c.1147G>A	XP_024308774.1:p.Glu383Lys
XR_001739705.1:n.3607-341C>T
XR_923313.2:n.4043-341C>T
NM_000312.4:c.1045G>A MANE Select	NP_000303.1:p.Glu349Lys
NM_001375602.1:c.1228G>A	NP_001362531.1:p.Glu410Lys
NM_001375603.1:c.1210G>A	NP_001362532.1:p.Glu404Lys
NM_001375604.1:c.1108G>A	NP_001362533.1:p.Glu370Lys
NM_001375605.1:c.1147G>A	NP_001362534.1:p.Glu383Lys
NM_001375606.1:c.1213G>A	NP_001362535.1:p.Glu405Lys
NM_001375607.1:c.1231G>A	NP_001362536.1:p.Glu411Lys
NM_001375608.1:c.988G>A	NP_001362537.1:p.Glu330Lys
NM_001375609.1:c.1021G>A	NP_001362538.1:p.Glu341Lys
NM_001375610.1:c.1039G>A	NP_001362539.1:p.Glu347Lys
NM_001375611.1:c.1045G>A	NP_001362540.1:p.Glu349Lys
NM_001375613.1:c.1045G>A	NP_001362542.1:p.Glu349Lys