Canonical Allele Identifier: CA338881485

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575907G>A , CM000663.2:g.21575907G>A	GRCh38
NC_000001.10:g.21902400G>A , CM000663.1:g.21902400G>A	GRCh37
NC_000001.9:g.21774987G>A	NCBI36
NG_008940.1:g.71543G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000478.6:c.1172G>A MANE Select	NP_000469.3:p.Arg391His
ENST00000374840.8:c.1172G>A MANE Select	ENSP00000363973.3:p.Arg391His
NM_000478.4:c.1172G>A	NP_000469.3:p.Arg391His
NM_000478.5:c.1172G>A	NP_000469.3:p.Arg391His
NM_001127501.2:c.1007G>A	NP_001120973.2:p.Arg336His
NM_001127501.3:c.1007G>A	NP_001120973.2:p.Arg336His
NM_001127501.4:c.1007G>A	NP_001120973.2:p.Arg336His
NM_001177520.1:c.941G>A	NP_001170991.1:p.Arg314His
NM_001177520.2:c.941G>A	NP_001170991.1:p.Arg314His
NM_001177520.3:c.941G>A	NP_001170991.1:p.Arg314His
NM_001369803.2:c.1172G>A	NP_001356732.1:p.Arg391His
NM_001369804.2:c.1172G>A	NP_001356733.1:p.Arg391His
NM_001369805.2:c.1172G>A	NP_001356734.1:p.Arg391His
ENST00000374829.2:n.441G>A
ENST00000374830.2:c.247G>A
ENST00000374832.5:c.1172G>A	ENSP00000363965.1:p.Arg391His
ENST00000374840.7:c.1172G>A	ENSP00000363973.3:p.Arg391His
ENST00000539907.5:c.941G>A	ENSP00000437674.1:p.Arg314His
ENST00000540617.5:c.1007G>A	ENSP00000442672.1:p.Arg336His
XM_005245818.1:c.1172G>A	XP_005245875.1:p.Arg391His
XM_006710546.1:c.1172G>A	XP_006710609.1:p.Arg391His
XM_006710546.3:c.1172G>A	XP_006710609.1:p.Arg391His
XM_017000903.1:c.1016G>A	XP_016856392.1:p.Arg339His