Canonical Allele Identifier: CA55351258

Gene: PROC

Linked Data

• dbSNP Id: rs933392415
• gnomAD v4: 2-127428729-T-A
• MyVariant Identifiers: chr2:g.128186305T>A (hg19) ; chr2:g.127428729T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428729T>A , CM000664.2:g.127428729T>A	GRCh38
NC_000002.11:g.128186305T>A , CM000664.1:g.128186305T>A	GRCh37
NC_000002.10:g.127902775T>A	NCBI36
NG_016323.1:g.15310T>A , LRG_599:g.15310T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1169T>A MANE Select	ENSP00000234071.4:p.Ile390Asn
ENST00000234071.7:c.1169T>A	ENSP00000234071.3:p.Ile390Asn
ENST00000402125.2:c.493T>A
ENST00000409048.1:c.1271T>A	ENSP00000386679.1:p.Ile424Asn
NM_000312.3:c.1169T>A , LRG_599t1:c.1169T>A	NP_000303.1:p.Ile390Asn
XM_005263715.3:c.1352T>A	XP_005263772.1:p.Ile451Asn
XM_005263716.3:c.1334T>A	XP_005263773.1:p.Ile445Asn
XM_005263717.3:c.1232T>A	XP_005263774.1:p.Ile411Asn
XR_923313.1:n.1332-465A>T
XM_005263717.4:c.1232T>A	XP_005263774.1:p.Ile411Asn
XM_017004505.1:c.1412T>A	XP_016859994.1:p.Ile471Asn
XM_024453002.1:c.1514T>A	XP_024308770.1:p.Ile505Asn
XM_024453003.1:c.1454T>A	XP_024308771.1:p.Ile485Asn
XM_024453004.1:c.1352T>A	XP_024308772.1:p.Ile451Asn
XM_024453005.1:c.1334T>A	XP_024308773.1:p.Ile445Asn
XM_024453006.1:c.1271T>A	XP_024308774.1:p.Ile424Asn
XR_001739705.1:n.3607-465A>T
XR_923313.2:n.4043-465A>T
NM_000312.4:c.1169T>A MANE Select	NP_000303.1:p.Ile390Asn
NM_001375602.1:c.1352T>A	NP_001362531.1:p.Ile451Asn
NM_001375603.1:c.1334T>A	NP_001362532.1:p.Ile445Asn
NM_001375604.1:c.1232T>A	NP_001362533.1:p.Ile411Asn
NM_001375605.1:c.1271T>A	NP_001362534.1:p.Ile424Asn
NM_001375606.1:c.1337T>A	NP_001362535.1:p.Ile446Asn
NM_001375607.1:c.1355T>A	NP_001362536.1:p.Ile452Asn
NM_001375608.1:c.1112T>A	NP_001362537.1:p.Ile371Asn
NM_001375609.1:c.1145T>A	NP_001362538.1:p.Ile382Asn
NM_001375610.1:c.1163T>A	NP_001362539.1:p.Ile388Asn
NM_001375611.1:c.1169T>A	NP_001362540.1:p.Ile390Asn
NM_001375613.1:c.1169T>A	NP_001362542.1:p.Ile390Asn