Canonical Allele Identifier: CA338879076

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21568125A>G , CM000663.2:g.21568125A>G	GRCh38
NC_000001.10:g.21894618A>G , CM000663.1:g.21894618A>G	GRCh37
NC_000001.9:g.21767205A>G	NCBI36
NG_008940.1:g.63761A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000478.6:c.670A>G MANE Select	NP_000469.3:p.Lys224Glu
ENST00000374840.8:c.670A>G MANE Select	ENSP00000363973.3:p.Lys224Glu
NM_000478.4:c.670A>G	NP_000469.3:p.Lys224Glu
NM_000478.5:c.670A>G	NP_000469.3:p.Lys224Glu
NM_001127501.2:c.505A>G	NP_001120973.2:p.Lys169Glu
NM_001127501.3:c.505A>G	NP_001120973.2:p.Lys169Glu
NM_001127501.4:c.505A>G	NP_001120973.2:p.Lys169Glu
NM_001177520.1:c.439A>G	NP_001170991.1:p.Lys147Glu
NM_001177520.2:c.439A>G	NP_001170991.1:p.Lys147Glu
NM_001177520.3:c.439A>G	NP_001170991.1:p.Lys147Glu
NM_001369803.2:c.670A>G	NP_001356732.1:p.Lys224Glu
NM_001369804.2:c.670A>G	NP_001356733.1:p.Lys224Glu
NM_001369805.2:c.670A>G	NP_001356734.1:p.Lys224Glu
ENST00000374832.5:c.670A>G	ENSP00000363965.1:p.Lys224Glu
ENST00000374840.7:c.670A>G	ENSP00000363973.3:p.Lys224Glu
ENST00000539907.5:c.439A>G	ENSP00000437674.1:p.Lys147Glu
ENST00000540617.5:c.505A>G	ENSP00000442672.1:p.Lys169Glu
XM_005245818.1:c.670A>G	XP_005245875.1:p.Lys224Glu
XM_005245820.2:c.670A>G	XP_005245877.1:p.Lys224Glu
XM_006710546.1:c.670A>G	XP_006710609.1:p.Lys224Glu
XM_006710546.3:c.670A>G	XP_006710609.1:p.Lys224Glu
XM_017000903.1:c.514A>G	XP_016856392.1:p.Lys172Glu