Canonical Allele Identifier: CA416534054

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2719103
• ClinVar RCV Id: RCV003553469
• MyVariant Identifiers: chr1:g.21903106A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21576613A>G , CM000663.2:g.21576613A>G	GRCh38
NC_000001.10:g.21903106A>G , CM000663.1:g.21903106A>G	GRCh37
NC_000001.9:g.21775693A>G	NCBI36
NG_008940.1:g.72249A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1281A>G MANE Select	ENSP00000363973.3:p.Glu427=
ENST00000374829.2:n.550A>G
ENST00000374830.2:c.356A>G
ENST00000374832.5:c.1281A>G	ENSP00000363965.1:p.Glu427=
ENST00000374840.7:c.1281A>G	ENSP00000363973.3:p.Glu427=
ENST00000539907.5:c.1050A>G	ENSP00000437674.1:p.Glu350=
ENST00000540617.5:c.1116A>G	ENSP00000442672.1:p.Glu372=
NM_000478.4:c.1281A>G	NP_000469.3:p.Glu427=
NM_001127501.2:c.1116A>G	NP_001120973.2:p.Glu372=
NM_001177520.1:c.1050A>G	NP_001170991.1:p.Glu350=
XM_005245818.1:c.1281A>G	XP_005245875.1:p.Glu427=
XM_006710546.1:c.1281A>G	XP_006710609.1:p.Glu427=
NM_000478.5:c.1281A>G	NP_000469.3:p.Glu427=
NM_001127501.3:c.1116A>G	NP_001120973.2:p.Glu372=
NM_001177520.2:c.1050A>G	NP_001170991.1:p.Glu350=
XM_006710546.3:c.1281A>G	XP_006710609.1:p.Glu427=
XM_017000903.1:c.1125A>G	XP_016856392.1:p.Glu375=
NM_000478.6:c.1281A>G MANE Select	NP_000469.3:p.Glu427=
NM_001127501.4:c.1116A>G	NP_001120973.2:p.Glu372=
NM_001177520.3:c.1050A>G	NP_001170991.1:p.Glu350=
NM_001369803.2:c.1281A>G	NP_001356732.1:p.Glu427=
NM_001369804.2:c.1281A>G	NP_001356733.1:p.Glu427=
NM_001369805.2:c.1281A>G	NP_001356734.1:p.Glu427=