Canonical Allele Identifier: CA348406219

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186334G>T (hg19) ; chr2:g.127428758G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428758G>T , CM000664.2:g.127428758G>T	GRCh38
NC_000002.11:g.128186334G>T , CM000664.1:g.128186334G>T	GRCh37
NC_000002.10:g.127902804G>T	NCBI36
NG_016323.1:g.15339G>T , LRG_599:g.15339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1198G>T MANE Select	ENSP00000234071.4:p.Gly400Cys
ENST00000234071.7:c.1198G>T	ENSP00000234071.3:p.Gly400Cys
ENST00000402125.2:c.522G>T
ENST00000409048.1:c.1300G>T	ENSP00000386679.1:p.Gly434Cys
NM_000312.3:c.1198G>T , LRG_599t1:c.1198G>T	NP_000303.1:p.Gly400Cys
XM_005263715.3:c.1381G>T	XP_005263772.1:p.Gly461Cys
XM_005263716.3:c.1363G>T	XP_005263773.1:p.Gly455Cys
XM_005263717.3:c.1261G>T	XP_005263774.1:p.Gly421Cys
XR_923313.1:n.1332-494C>A
XM_005263717.4:c.1261G>T	XP_005263774.1:p.Gly421Cys
XM_017004505.1:c.1441G>T	XP_016859994.1:p.Gly481Cys
XM_024453002.1:c.1543G>T	XP_024308770.1:p.Gly515Cys
XM_024453003.1:c.1483G>T	XP_024308771.1:p.Gly495Cys
XM_024453004.1:c.1381G>T	XP_024308772.1:p.Gly461Cys
XM_024453005.1:c.1363G>T	XP_024308773.1:p.Gly455Cys
XM_024453006.1:c.1300G>T	XP_024308774.1:p.Gly434Cys
XR_001739705.1:n.3607-494C>A
XR_923313.2:n.4043-494C>A
NM_000312.4:c.1198G>T MANE Select	NP_000303.1:p.Gly400Cys
NM_001375602.1:c.1381G>T	NP_001362531.1:p.Gly461Cys
NM_001375603.1:c.1363G>T	NP_001362532.1:p.Gly455Cys
NM_001375604.1:c.1261G>T	NP_001362533.1:p.Gly421Cys
NM_001375605.1:c.1300G>T	NP_001362534.1:p.Gly434Cys
NM_001375606.1:c.1366G>T	NP_001362535.1:p.Gly456Cys
NM_001375607.1:c.1384G>T	NP_001362536.1:p.Gly462Cys
NM_001375608.1:c.1141G>T	NP_001362537.1:p.Gly381Cys
NM_001375609.1:c.1174G>T	NP_001362538.1:p.Gly392Cys
NM_001375610.1:c.1192G>T	NP_001362539.1:p.Gly398Cys
NM_001375611.1:c.1198G>T	NP_001362540.1:p.Gly400Cys
NM_001375613.1:c.1198G>T	NP_001362542.1:p.Gly400Cys