Canonical Allele Identifier: CA1859466

Gene: PROC

Linked Data

• dbSNP Id: rs563901001
• ExAC: 2:128185956 G / T
• gnomAD v2: 2-128185956-G-T
• gnomAD v3: 2-127428380-G-T
• gnomAD v4: 2-127428380-G-T
• MyVariant Identifiers: chr2:g.128185956G>T (hg19) ; chr2:g.127428380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428380G>T , CM000664.2:g.127428380G>T	GRCh38
NC_000002.11:g.128185956G>T , CM000664.1:g.128185956G>T	GRCh37
NC_000002.10:g.127902426G>T	NCBI36
NG_016323.1:g.14961G>T , LRG_599:g.14961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.820G>T MANE Select	ENSP00000234071.4:p.Glu274Ter
ENST00000234071.7:c.820G>T	ENSP00000234071.3:p.Glu274Ter
ENST00000402125.2:c.144G>T
ENST00000409048.1:c.922G>T	ENSP00000386679.1:p.Glu308Ter
NM_000312.3:c.820G>T , LRG_599t1:c.820G>T	NP_000303.1:p.Glu274Ter
XM_005263715.3:c.1003G>T	XP_005263772.1:p.Glu335Ter
XM_005263716.3:c.985G>T	XP_005263773.1:p.Glu329Ter
XM_005263717.3:c.883G>T	XP_005263774.1:p.Glu295Ter
XR_923313.1:n.1332-116C>A
XM_005263717.4:c.883G>T	XP_005263774.1:p.Glu295Ter
XM_017004505.1:c.1063G>T	XP_016859994.1:p.Glu355Ter
XM_024453002.1:c.1165G>T	XP_024308770.1:p.Glu389Ter
XM_024453003.1:c.1105G>T	XP_024308771.1:p.Glu369Ter
XM_024453004.1:c.1003G>T	XP_024308772.1:p.Glu335Ter
XM_024453005.1:c.985G>T	XP_024308773.1:p.Glu329Ter
XM_024453006.1:c.922G>T	XP_024308774.1:p.Glu308Ter
XR_001739705.1:n.3607-116C>A
XR_923313.2:n.4043-116C>A
NM_000312.4:c.820G>T MANE Select	NP_000303.1:p.Glu274Ter
NM_001375602.1:c.1003G>T	NP_001362531.1:p.Glu335Ter
NM_001375603.1:c.985G>T	NP_001362532.1:p.Glu329Ter
NM_001375604.1:c.883G>T	NP_001362533.1:p.Glu295Ter
NM_001375605.1:c.922G>T	NP_001362534.1:p.Glu308Ter
NM_001375606.1:c.988G>T	NP_001362535.1:p.Glu330Ter
NM_001375607.1:c.1006G>T	NP_001362536.1:p.Glu336Ter
NM_001375608.1:c.763G>T	NP_001362537.1:p.Glu255Ter
NM_001375609.1:c.796G>T	NP_001362538.1:p.Glu266Ter
NM_001375610.1:c.814G>T	NP_001362539.1:p.Glu272Ter
NM_001375611.1:c.820G>T	NP_001362540.1:p.Glu274Ter
NM_001375613.1:c.820G>T	NP_001362542.1:p.Glu274Ter