Canonical Allele Identifier: CA348405652

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186187G>A (hg19) ; chr2:g.127428611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428611G>A , CM000664.2:g.127428611G>A	GRCh38
NC_000002.11:g.128186187G>A , CM000664.1:g.128186187G>A	GRCh37
NC_000002.10:g.127902657G>A	NCBI36
NG_016323.1:g.15192G>A , LRG_599:g.15192G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1051G>A MANE Select	ENSP00000234071.4:p.Glu351Lys
ENST00000234071.7:c.1051G>A	ENSP00000234071.3:p.Glu351Lys
ENST00000402125.2:c.375G>A
ENST00000409048.1:c.1153G>A	ENSP00000386679.1:p.Glu385Lys
NM_000312.3:c.1051G>A , LRG_599t1:c.1051G>A	NP_000303.1:p.Glu351Lys
XM_005263715.3:c.1234G>A	XP_005263772.1:p.Glu412Lys
XM_005263716.3:c.1216G>A	XP_005263773.1:p.Glu406Lys
XM_005263717.3:c.1114G>A	XP_005263774.1:p.Glu372Lys
XR_923313.1:n.1332-347C>T
XM_005263717.4:c.1114G>A	XP_005263774.1:p.Glu372Lys
XM_017004505.1:c.1294G>A	XP_016859994.1:p.Glu432Lys
XM_024453002.1:c.1396G>A	XP_024308770.1:p.Glu466Lys
XM_024453003.1:c.1336G>A	XP_024308771.1:p.Glu446Lys
XM_024453004.1:c.1234G>A	XP_024308772.1:p.Glu412Lys
XM_024453005.1:c.1216G>A	XP_024308773.1:p.Glu406Lys
XM_024453006.1:c.1153G>A	XP_024308774.1:p.Glu385Lys
XR_001739705.1:n.3607-347C>T
XR_923313.2:n.4043-347C>T
NM_000312.4:c.1051G>A MANE Select	NP_000303.1:p.Glu351Lys
NM_001375602.1:c.1234G>A	NP_001362531.1:p.Glu412Lys
NM_001375603.1:c.1216G>A	NP_001362532.1:p.Glu406Lys
NM_001375604.1:c.1114G>A	NP_001362533.1:p.Glu372Lys
NM_001375605.1:c.1153G>A	NP_001362534.1:p.Glu385Lys
NM_001375606.1:c.1219G>A	NP_001362535.1:p.Glu407Lys
NM_001375607.1:c.1237G>A	NP_001362536.1:p.Glu413Lys
NM_001375608.1:c.994G>A	NP_001362537.1:p.Glu332Lys
NM_001375609.1:c.1027G>A	NP_001362538.1:p.Glu343Lys
NM_001375610.1:c.1045G>A	NP_001362539.1:p.Glu349Lys
NM_001375611.1:c.1051G>A	NP_001362540.1:p.Glu351Lys
NM_001375613.1:c.1051G>A	NP_001362542.1:p.Glu351Lys