Canonical Allele Identifier: CA338880305

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573733G>T , CM000663.2:g.21573733G>T	GRCh38
NC_000001.10:g.21900226G>T , CM000663.1:g.21900226G>T	GRCh37
NC_000001.9:g.21772813G>T	NCBI36
NG_008940.1:g.69369G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000478.6:c.931G>T MANE Select	NP_000469.3:p.Glu311Ter
ENST00000374840.8:c.931G>T MANE Select	ENSP00000363973.3:p.Glu311Ter
NM_000478.4:c.931G>T	NP_000469.3:p.Glu311Ter
NM_000478.5:c.931G>T	NP_000469.3:p.Glu311Ter
NM_001127501.2:c.766G>T	NP_001120973.2:p.Glu256Ter
NM_001127501.3:c.766G>T	NP_001120973.2:p.Glu256Ter
NM_001127501.4:c.766G>T	NP_001120973.2:p.Glu256Ter
NM_001177520.1:c.700G>T	NP_001170991.1:p.Glu234Ter
NM_001177520.2:c.700G>T	NP_001170991.1:p.Glu234Ter
NM_001177520.3:c.700G>T	NP_001170991.1:p.Glu234Ter
NM_001369803.2:c.931G>T	NP_001356732.1:p.Glu311Ter
NM_001369804.2:c.931G>T	NP_001356733.1:p.Glu311Ter
NM_001369805.2:c.931G>T	NP_001356734.1:p.Glu311Ter
ENST00000374830.2:c.73-2000G>T
ENST00000374832.5:c.931G>T	ENSP00000363965.1:p.Glu311Ter
ENST00000374840.7:c.931G>T	ENSP00000363973.3:p.Glu311Ter
ENST00000539907.5:c.700G>T	ENSP00000437674.1:p.Glu234Ter
ENST00000540617.5:c.766G>T	ENSP00000442672.1:p.Glu256Ter
XM_005245818.1:c.931G>T	XP_005245875.1:p.Glu311Ter
XM_005245820.2:c.931G>T	XP_005245877.1:p.Glu311Ter
XM_006710546.1:c.931G>T	XP_006710609.1:p.Glu311Ter
XM_006710546.3:c.931G>T	XP_006710609.1:p.Glu311Ter
XM_017000903.1:c.775G>T	XP_016856392.1:p.Glu259Ter