Canonical Allele Identifier: CA666358

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21554103C>T , CM000663.2:g.21554103C>T	GRCh38
NC_000001.10:g.21880596C>T , CM000663.1:g.21880596C>T	GRCh37
NC_000001.9:g.21753183C>T	NCBI36
NG_008940.1:g.49739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.22C>T MANE Select	ENSP00000363973.3:p.Leu8=
ENST00000374832.5:c.22C>T	ENSP00000363965.1:p.Leu8=
ENST00000374840.7:c.22C>T	ENSP00000363973.3:p.Leu8=
ENST00000468526.1:n.122-6523C>T
ENST00000539907.5:c.-54-6523C>T	ENSP00000437674.1:n.-54-6523C>T
ENST00000540617.5:c.-104-6523C>T	ENSP00000442672.1:n.-104-6523C>T
NM_000478.4:c.22C>T	NP_000469.3:p.Leu8=
NM_001127501.2:c.-104-6523C>T	NP_001120973.2:n.-104-6523C>T
NM_001177520.1:c.-54-6523C>T	NP_001170991.1:n.-54-6523C>T
XM_005245818.1:c.22C>T	XP_005245875.1:p.Leu8=
XM_005245820.2:c.22C>T	XP_005245877.1:p.Leu8=
XM_006710546.1:c.22C>T	XP_006710609.1:p.Leu8=
NM_000478.5:c.22C>T	NP_000469.3:p.Leu8=
NM_001127501.3:c.-104-6523C>T	NP_001120973.2:n.-104-6523C>T
NM_001177520.2:c.-54-6523C>T	NP_001170991.1:n.-54-6523C>T
XM_006710546.3:c.22C>T	XP_006710609.1:p.Leu8=
NM_000478.6:c.22C>T MANE Select	NP_000469.3:p.Leu8=
NM_001127501.4:c.-104-6523C>T	NP_001120973.2:n.-104-6523C>T
NM_001177520.3:c.-54-6523C>T	NP_001170991.1:n.-54-6523C>T
NM_001369803.2:c.22C>T	NP_001356732.1:p.Leu8=
NM_001369804.2:c.22C>T	NP_001356733.1:p.Leu8=
NM_001369805.2:c.22C>T	NP_001356734.1:p.Leu8=