Canonical Allele Identifier: CA348406577

Gene: PROC

Linked Data

• dbSNP Id: rs1688707196
• MyVariant Identifiers: chr2:g.128186419T>A (hg19) ; chr2:g.127428843T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428843T>A , CM000664.2:g.127428843T>A	GRCh38
NC_000002.11:g.128186419T>A , CM000664.1:g.128186419T>A	GRCh37
NC_000002.10:g.127902889T>A	NCBI36
NG_016323.1:g.15424T>A , LRG_599:g.15424T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1283T>A MANE Select	ENSP00000234071.4:p.Leu428His
ENST00000234071.7:c.1283T>A	ENSP00000234071.3:p.Leu428His
ENST00000402125.2:c.607T>A
ENST00000409048.1:c.1385T>A	ENSP00000386679.1:p.Leu462His
NM_000312.3:c.1283T>A , LRG_599t1:c.1283T>A	NP_000303.1:p.Leu428His
XM_005263715.3:c.1466T>A	XP_005263772.1:p.Leu489His
XM_005263716.3:c.1448T>A	XP_005263773.1:p.Leu483His
XM_005263717.3:c.1346T>A	XP_005263774.1:p.Leu449His
XR_923313.1:n.1332-579A>T
XM_005263717.4:c.1346T>A	XP_005263774.1:p.Leu449His
XM_017004505.1:c.1526T>A	XP_016859994.1:p.Leu509His
XM_024453002.1:c.1628T>A	XP_024308770.1:p.Leu543His
XM_024453003.1:c.1568T>A	XP_024308771.1:p.Leu523His
XM_024453004.1:c.1466T>A	XP_024308772.1:p.Leu489His
XM_024453005.1:c.1448T>A	XP_024308773.1:p.Leu483His
XM_024453006.1:c.1385T>A	XP_024308774.1:p.Leu462His
XR_001739705.1:n.3607-579A>T
XR_923313.2:n.4043-579A>T
NM_000312.4:c.1283T>A MANE Select	NP_000303.1:p.Leu428His
NM_001375602.1:c.1466T>A	NP_001362531.1:p.Leu489His
NM_001375603.1:c.1448T>A	NP_001362532.1:p.Leu483His
NM_001375604.1:c.1346T>A	NP_001362533.1:p.Leu449His
NM_001375605.1:c.1385T>A	NP_001362534.1:p.Leu462His
NM_001375606.1:c.1451T>A	NP_001362535.1:p.Leu484His
NM_001375607.1:c.1469T>A	NP_001362536.1:p.Leu490His
NM_001375608.1:c.1226T>A	NP_001362537.1:p.Leu409His
NM_001375609.1:c.1259T>A	NP_001362538.1:p.Leu420His
NM_001375610.1:c.1277T>A	NP_001362539.1:p.Leu426His
NM_001375611.1:c.1283T>A	NP_001362540.1:p.Leu428His
NM_001375613.1:c.1283T>A	NP_001362542.1:p.Leu428His