Canonical Allele Identifier: CA338877550

Gene: ALPL

Linked Data

• dbSNP Id: rs770093969
• gnomAD v2: 1-21887176-C-G
• MyVariant Identifiers: chr1:g.21887176C>G (hg19) ; chr1:g.21560683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21560683C>G , CM000663.2:g.21560683C>G	GRCh38
NC_000001.10:g.21887176C>G , CM000663.1:g.21887176C>G	GRCh37
NC_000001.9:g.21759763C>G	NCBI36
NG_008940.1:g.56319C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.119C>G MANE Select	ENSP00000363973.3:p.Ala40Gly
ENST00000374832.5:c.119C>G	ENSP00000363965.1:p.Ala40Gly
ENST00000374840.7:c.119C>G	ENSP00000363973.3:p.Ala40Gly
ENST00000468526.1:n.179C>G
ENST00000539907.5:c.4C>G	ENSP00000437674.1:p.Pro2Ala
ENST00000540617.5:c.-47C>G	ENSP00000442672.1:n.-47C>G
NM_000478.4:c.119C>G	NP_000469.3:p.Ala40Gly
NM_001127501.2:c.-47C>G	NP_001120973.2:n.-47C>G
NM_001177520.1:c.4C>G	NP_001170991.1:p.Pro2Ala
XM_005245818.1:c.119C>G	XP_005245875.1:p.Ala40Gly
XM_005245820.2:c.119C>G	XP_005245877.1:p.Ala40Gly
XM_006710546.1:c.119C>G	XP_006710609.1:p.Ala40Gly
NM_000478.5:c.119C>G	NP_000469.3:p.Ala40Gly
NM_001127501.3:c.-47C>G	NP_001120973.2:n.-47C>G
NM_001177520.2:c.4C>G	NP_001170991.1:p.Pro2Ala
XM_006710546.3:c.119C>G	XP_006710609.1:p.Ala40Gly
XM_017000903.1:c.4C>G	XP_016856392.1:p.Pro2Ala
NM_000478.6:c.119C>G MANE Select	NP_000469.3:p.Ala40Gly
NM_001127501.4:c.-47C>G	NP_001120973.2:n.-47C>G
NM_001177520.3:c.4C>G	NP_001170991.1:p.Pro2Ala
NM_001369803.2:c.119C>G	NP_001356732.1:p.Ala40Gly
NM_001369804.2:c.119C>G	NP_001356733.1:p.Ala40Gly
NM_001369805.2:c.119C>G	NP_001356734.1:p.Ala40Gly