Canonical Allele Identifier: CA348405714

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186215T>A (hg19) ; chr2:g.127428639T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428639T>A , CM000664.2:g.127428639T>A	GRCh38
NC_000002.11:g.128186215T>A , CM000664.1:g.128186215T>A	GRCh37
NC_000002.10:g.127902685T>A	NCBI36
NG_016323.1:g.15220T>A , LRG_599:g.15220T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1079T>A MANE Select	ENSP00000234071.4:p.Leu360His
ENST00000234071.7:c.1079T>A	ENSP00000234071.3:p.Leu360His
ENST00000402125.2:c.403T>A
ENST00000409048.1:c.1181T>A	ENSP00000386679.1:p.Leu394His
NM_000312.3:c.1079T>A , LRG_599t1:c.1079T>A	NP_000303.1:p.Leu360His
XM_005263715.3:c.1262T>A	XP_005263772.1:p.Leu421His
XM_005263716.3:c.1244T>A	XP_005263773.1:p.Leu415His
XM_005263717.3:c.1142T>A	XP_005263774.1:p.Leu381His
XR_923313.1:n.1332-375A>T
XM_005263717.4:c.1142T>A	XP_005263774.1:p.Leu381His
XM_017004505.1:c.1322T>A	XP_016859994.1:p.Leu441His
XM_024453002.1:c.1424T>A	XP_024308770.1:p.Leu475His
XM_024453003.1:c.1364T>A	XP_024308771.1:p.Leu455His
XM_024453004.1:c.1262T>A	XP_024308772.1:p.Leu421His
XM_024453005.1:c.1244T>A	XP_024308773.1:p.Leu415His
XM_024453006.1:c.1181T>A	XP_024308774.1:p.Leu394His
XR_001739705.1:n.3607-375A>T
XR_923313.2:n.4043-375A>T
NM_000312.4:c.1079T>A MANE Select	NP_000303.1:p.Leu360His
NM_001375602.1:c.1262T>A	NP_001362531.1:p.Leu421His
NM_001375603.1:c.1244T>A	NP_001362532.1:p.Leu415His
NM_001375604.1:c.1142T>A	NP_001362533.1:p.Leu381His
NM_001375605.1:c.1181T>A	NP_001362534.1:p.Leu394His
NM_001375606.1:c.1247T>A	NP_001362535.1:p.Leu416His
NM_001375607.1:c.1265T>A	NP_001362536.1:p.Leu422His
NM_001375608.1:c.1022T>A	NP_001362537.1:p.Leu341His
NM_001375609.1:c.1055T>A	NP_001362538.1:p.Leu352His
NM_001375610.1:c.1073T>A	NP_001362539.1:p.Leu358His
NM_001375611.1:c.1079T>A	NP_001362540.1:p.Leu360His
NM_001375613.1:c.1079T>A	NP_001362542.1:p.Leu360His