Canonical Allele Identifier: CA348404255

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185944C>A (hg19) ; chr2:g.127428368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428368C>A , CM000664.2:g.127428368C>A	GRCh38
NC_000002.11:g.128185944C>A , CM000664.1:g.128185944C>A	GRCh37
NC_000002.10:g.127902414C>A	NCBI36
NG_016323.1:g.14949C>A , LRG_599:g.14949C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.808C>A MANE Select	ENSP00000234071.4:p.Leu270Met
ENST00000234071.7:c.808C>A	ENSP00000234071.3:p.Leu270Met
ENST00000402125.2:c.132C>A
ENST00000409048.1:c.910C>A	ENSP00000386679.1:p.Leu304Met
NM_000312.3:c.808C>A , LRG_599t1:c.808C>A	NP_000303.1:p.Leu270Met
XM_005263715.3:c.991C>A	XP_005263772.1:p.Leu331Met
XM_005263716.3:c.973C>A	XP_005263773.1:p.Leu325Met
XM_005263717.3:c.871C>A	XP_005263774.1:p.Leu291Met
XR_923313.1:n.1332-104G>T
XM_005263717.4:c.871C>A	XP_005263774.1:p.Leu291Met
XM_017004505.1:c.1051C>A	XP_016859994.1:p.Leu351Met
XM_024453002.1:c.1153C>A	XP_024308770.1:p.Leu385Met
XM_024453003.1:c.1093C>A	XP_024308771.1:p.Leu365Met
XM_024453004.1:c.991C>A	XP_024308772.1:p.Leu331Met
XM_024453005.1:c.973C>A	XP_024308773.1:p.Leu325Met
XM_024453006.1:c.910C>A	XP_024308774.1:p.Leu304Met
XR_001739705.1:n.3607-104G>T
XR_923313.2:n.4043-104G>T
NM_000312.4:c.808C>A MANE Select	NP_000303.1:p.Leu270Met
NM_001375602.1:c.991C>A	NP_001362531.1:p.Leu331Met
NM_001375603.1:c.973C>A	NP_001362532.1:p.Leu325Met
NM_001375604.1:c.871C>A	NP_001362533.1:p.Leu291Met
NM_001375605.1:c.910C>A	NP_001362534.1:p.Leu304Met
NM_001375606.1:c.976C>A	NP_001362535.1:p.Leu326Met
NM_001375607.1:c.994C>A	NP_001362536.1:p.Leu332Met
NM_001375608.1:c.751C>A	NP_001362537.1:p.Leu251Met
NM_001375609.1:c.784C>A	NP_001362538.1:p.Leu262Met
NM_001375610.1:c.802C>A	NP_001362539.1:p.Leu268Met
NM_001375611.1:c.808C>A	NP_001362540.1:p.Leu270Met
NM_001375613.1:c.808C>A	NP_001362542.1:p.Leu270Met