Canonical Allele Identifier: CA348405949

Gene: PROC

Linked Data

• dbSNP Id: rs1375075460
• gnomAD v2: 2-128186272-A-T
• MyVariant Identifiers: chr2:g.128186272A>T (hg19) ; chr2:g.127428696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428696A>T , CM000664.2:g.127428696A>T	GRCh38
NC_000002.11:g.128186272A>T , CM000664.1:g.128186272A>T	GRCh37
NC_000002.10:g.127902742A>T	NCBI36
NG_016323.1:g.15277A>T , LRG_599:g.15277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1136A>T MANE Select	ENSP00000234071.4:p.Asn379Ile
ENST00000234071.7:c.1136A>T	ENSP00000234071.3:p.Asn379Ile
ENST00000402125.2:c.460A>T
ENST00000409048.1:c.1238A>T	ENSP00000386679.1:p.Asn413Ile
NM_000312.3:c.1136A>T , LRG_599t1:c.1136A>T	NP_000303.1:p.Asn379Ile
XM_005263715.3:c.1319A>T	XP_005263772.1:p.Asn440Ile
XM_005263716.3:c.1301A>T	XP_005263773.1:p.Asn434Ile
XM_005263717.3:c.1199A>T	XP_005263774.1:p.Asn400Ile
XR_923313.1:n.1332-432T>A
XM_005263717.4:c.1199A>T	XP_005263774.1:p.Asn400Ile
XM_017004505.1:c.1379A>T	XP_016859994.1:p.Asn460Ile
XM_024453002.1:c.1481A>T	XP_024308770.1:p.Asn494Ile
XM_024453003.1:c.1421A>T	XP_024308771.1:p.Asn474Ile
XM_024453004.1:c.1319A>T	XP_024308772.1:p.Asn440Ile
XM_024453005.1:c.1301A>T	XP_024308773.1:p.Asn434Ile
XM_024453006.1:c.1238A>T	XP_024308774.1:p.Asn413Ile
XR_001739705.1:n.3607-432T>A
XR_923313.2:n.4043-432T>A
NM_000312.4:c.1136A>T MANE Select	NP_000303.1:p.Asn379Ile
NM_001375602.1:c.1319A>T	NP_001362531.1:p.Asn440Ile
NM_001375603.1:c.1301A>T	NP_001362532.1:p.Asn434Ile
NM_001375604.1:c.1199A>T	NP_001362533.1:p.Asn400Ile
NM_001375605.1:c.1238A>T	NP_001362534.1:p.Asn413Ile
NM_001375606.1:c.1304A>T	NP_001362535.1:p.Asn435Ile
NM_001375607.1:c.1322A>T	NP_001362536.1:p.Asn441Ile
NM_001375608.1:c.1079A>T	NP_001362537.1:p.Asn360Ile
NM_001375609.1:c.1112A>T	NP_001362538.1:p.Asn371Ile
NM_001375610.1:c.1130A>T	NP_001362539.1:p.Asn377Ile
NM_001375611.1:c.1136A>T	NP_001362540.1:p.Asn379Ile
NM_001375613.1:c.1136A>T	NP_001362542.1:p.Asn379Ile