Canonical Allele Identifier: CA338881760

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21576572C>A , CM000663.2:g.21576572C>A	GRCh38
NC_000001.10:g.21903065C>A , CM000663.1:g.21903065C>A	GRCh37
NC_000001.9:g.21775652C>A	NCBI36
NG_008940.1:g.72208C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000478.6:c.1240C>A MANE Select	NP_000469.3:p.Leu414Met
ENST00000374840.8:c.1240C>A MANE Select	ENSP00000363973.3:p.Leu414Met
NM_000478.4:c.1240C>A	NP_000469.3:p.Leu414Met
NM_000478.5:c.1240C>A	NP_000469.3:p.Leu414Met
NM_001127501.2:c.1075C>A	NP_001120973.2:p.Leu359Met
NM_001127501.3:c.1075C>A	NP_001120973.2:p.Leu359Met
NM_001127501.4:c.1075C>A	NP_001120973.2:p.Leu359Met
NM_001177520.1:c.1009C>A	NP_001170991.1:p.Leu337Met
NM_001177520.2:c.1009C>A	NP_001170991.1:p.Leu337Met
NM_001177520.3:c.1009C>A	NP_001170991.1:p.Leu337Met
NM_001369803.2:c.1240C>A	NP_001356732.1:p.Leu414Met
NM_001369804.2:c.1240C>A	NP_001356733.1:p.Leu414Met
NM_001369805.2:c.1240C>A	NP_001356734.1:p.Leu414Met
ENST00000374829.2:n.509C>A
ENST00000374830.2:c.315C>A
ENST00000374832.5:c.1240C>A	ENSP00000363965.1:p.Leu414Met
ENST00000374840.7:c.1240C>A	ENSP00000363973.3:p.Leu414Met
ENST00000539907.5:c.1009C>A	ENSP00000437674.1:p.Leu337Met
ENST00000540617.5:c.1075C>A	ENSP00000442672.1:p.Leu359Met
XM_005245818.1:c.1240C>A	XP_005245875.1:p.Leu414Met
XM_006710546.1:c.1240C>A	XP_006710609.1:p.Leu414Met
XM_006710546.3:c.1240C>A	XP_006710609.1:p.Leu414Met
XM_017000903.1:c.1084C>A	XP_016856392.1:p.Leu362Met