Canonical Allele Identifier: CA338882067

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21577448G>T , CM000663.2:g.21577448G>T	GRCh38
NC_000001.10:g.21903941G>T , CM000663.1:g.21903941G>T	GRCh37
NC_000001.9:g.21776528G>T	NCBI36
NG_008940.1:g.73084G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000478.6:c.1375G>T MANE Select	NP_000469.3:p.Val459Leu
ENST00000374840.8:c.1375G>T MANE Select	ENSP00000363973.3:p.Val459Leu
NM_000478.4:c.1375G>T	NP_000469.3:p.Val459Leu
NM_000478.5:c.1375G>T	NP_000469.3:p.Val459Leu
NM_001127501.2:c.1210G>T	NP_001120973.2:p.Val404Leu
NM_001127501.3:c.1210G>T	NP_001120973.2:p.Val404Leu
NM_001127501.4:c.1210G>T	NP_001120973.2:p.Val404Leu
NM_001177520.1:c.1144G>T	NP_001170991.1:p.Val382Leu
NM_001177520.2:c.1144G>T	NP_001170991.1:p.Val382Leu
NM_001177520.3:c.1144G>T	NP_001170991.1:p.Val382Leu
NM_001369803.2:c.1375G>T	NP_001356732.1:p.Val459Leu
NM_001369804.2:c.1375G>T	NP_001356733.1:p.Val459Leu
NM_001369805.2:c.1375G>T	NP_001356734.1:p.Val459Leu
ENST00000374829.2:n.644G>T
ENST00000374830.2:c.450G>T
ENST00000374832.5:c.1375G>T	ENSP00000363965.1:p.Val459Leu
ENST00000374840.7:c.1375G>T	ENSP00000363973.3:p.Val459Leu
ENST00000539907.5:c.1144G>T	ENSP00000437674.1:p.Val382Leu
ENST00000540617.5:c.1210G>T	ENSP00000442672.1:p.Val404Leu
XM_005245818.1:c.1375G>T	XP_005245875.1:p.Val459Leu
XM_006710546.1:c.1375G>T	XP_006710609.1:p.Val459Leu
XM_006710546.3:c.1375G>T	XP_006710609.1:p.Val459Leu
XM_017000903.1:c.1219G>T	XP_016856392.1:p.Val407Leu