Canonical Allele Identifier: CA338882069

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21577449T>C , CM000663.2:g.21577449T>C	GRCh38
NC_000001.10:g.21903942T>C , CM000663.1:g.21903942T>C	GRCh37
NC_000001.9:g.21776529T>C	NCBI36
NG_008940.1:g.73085T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000478.6:c.1376T>C MANE Select	NP_000469.3:p.Val459Ala
ENST00000374840.8:c.1376T>C MANE Select	ENSP00000363973.3:p.Val459Ala
NM_000478.4:c.1376T>C	NP_000469.3:p.Val459Ala
NM_000478.5:c.1376T>C	NP_000469.3:p.Val459Ala
NM_001127501.2:c.1211T>C	NP_001120973.2:p.Val404Ala
NM_001127501.3:c.1211T>C	NP_001120973.2:p.Val404Ala
NM_001127501.4:c.1211T>C	NP_001120973.2:p.Val404Ala
NM_001177520.1:c.1145T>C	NP_001170991.1:p.Val382Ala
NM_001177520.2:c.1145T>C	NP_001170991.1:p.Val382Ala
NM_001177520.3:c.1145T>C	NP_001170991.1:p.Val382Ala
NM_001369803.2:c.1376T>C	NP_001356732.1:p.Val459Ala
NM_001369804.2:c.1376T>C	NP_001356733.1:p.Val459Ala
NM_001369805.2:c.1376T>C	NP_001356734.1:p.Val459Ala
ENST00000374829.2:n.645T>C
ENST00000374830.2:c.451T>C
ENST00000374832.5:c.1376T>C	ENSP00000363965.1:p.Val459Ala
ENST00000374840.7:c.1376T>C	ENSP00000363973.3:p.Val459Ala
ENST00000539907.5:c.1145T>C	ENSP00000437674.1:p.Val382Ala
ENST00000540617.5:c.1211T>C	ENSP00000442672.1:p.Val404Ala
XM_005245818.1:c.1376T>C	XP_005245875.1:p.Val459Ala
XM_006710546.1:c.1376T>C	XP_006710609.1:p.Val459Ala
XM_006710546.3:c.1376T>C	XP_006710609.1:p.Val459Ala
XM_017000903.1:c.1220T>C	XP_016856392.1:p.Val407Ala