Canonical Allele Identifier: CA348406402

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186376T>G (hg19) ; chr2:g.127428800T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428800T>G , CM000664.2:g.127428800T>G	GRCh38
NC_000002.11:g.128186376T>G , CM000664.1:g.128186376T>G	GRCh37
NC_000002.10:g.127902846T>G	NCBI36
NG_016323.1:g.15381T>G , LRG_599:g.15381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1240T>G MANE Select	ENSP00000234071.4:p.Trp414Gly
ENST00000234071.7:c.1240T>G	ENSP00000234071.3:p.Trp414Gly
ENST00000402125.2:c.564T>G
ENST00000409048.1:c.1342T>G	ENSP00000386679.1:p.Trp448Gly
NM_000312.3:c.1240T>G , LRG_599t1:c.1240T>G	NP_000303.1:p.Trp414Gly
XM_005263715.3:c.1423T>G	XP_005263772.1:p.Trp475Gly
XM_005263716.3:c.1405T>G	XP_005263773.1:p.Trp469Gly
XM_005263717.3:c.1303T>G	XP_005263774.1:p.Trp435Gly
XR_923313.1:n.1332-536A>C
XM_005263717.4:c.1303T>G	XP_005263774.1:p.Trp435Gly
XM_017004505.1:c.1483T>G	XP_016859994.1:p.Trp495Gly
XM_024453002.1:c.1585T>G	XP_024308770.1:p.Trp529Gly
XM_024453003.1:c.1525T>G	XP_024308771.1:p.Trp509Gly
XM_024453004.1:c.1423T>G	XP_024308772.1:p.Trp475Gly
XM_024453005.1:c.1405T>G	XP_024308773.1:p.Trp469Gly
XM_024453006.1:c.1342T>G	XP_024308774.1:p.Trp448Gly
XR_001739705.1:n.3607-536A>C
XR_923313.2:n.4043-536A>C
NM_000312.4:c.1240T>G MANE Select	NP_000303.1:p.Trp414Gly
NM_001375602.1:c.1423T>G	NP_001362531.1:p.Trp475Gly
NM_001375603.1:c.1405T>G	NP_001362532.1:p.Trp469Gly
NM_001375604.1:c.1303T>G	NP_001362533.1:p.Trp435Gly
NM_001375605.1:c.1342T>G	NP_001362534.1:p.Trp448Gly
NM_001375606.1:c.1408T>G	NP_001362535.1:p.Trp470Gly
NM_001375607.1:c.1426T>G	NP_001362536.1:p.Trp476Gly
NM_001375608.1:c.1183T>G	NP_001362537.1:p.Trp395Gly
NM_001375609.1:c.1216T>G	NP_001362538.1:p.Trp406Gly
NM_001375610.1:c.1234T>G	NP_001362539.1:p.Trp412Gly
NM_001375611.1:c.1240T>G	NP_001362540.1:p.Trp414Gly
NM_001375613.1:c.1240T>G	NP_001362542.1:p.Trp414Gly