Canonical Allele Identifier: CA19088467

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1070177
• ClinVar RCV Id: RCV001382221 ; RCV001836391
• dbSNP Id: rs121918003
• gnomAD v2: 1-21887620-G-A
• gnomAD v3: 1-21561127-G-A
• gnomAD v4: 1-21561127-G-A
• COSMIC: COSM1667223
• MyVariant Identifiers: chr1:g.21887620G>A (hg19) ; chr1:g.21561127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561127G>A , CM000663.2:g.21561127G>A	GRCh38
NC_000001.10:g.21887620G>A , CM000663.1:g.21887620G>A	GRCh37
NC_000001.9:g.21760207G>A	NCBI36
NG_008940.1:g.56763G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.212G>A MANE Select	ENSP00000363973.3:p.Arg71His
ENST00000374832.5:c.212G>A	ENSP00000363965.1:p.Arg71His
ENST00000374840.7:c.212G>A	ENSP00000363973.3:p.Arg71His
ENST00000468526.1:n.272G>A
ENST00000539907.5:c.66+382G>A	ENSP00000437674.1:n.66+382G>A
ENST00000540617.5:c.47G>A	ENSP00000442672.1:p.Arg16His
NM_000478.4:c.212G>A	NP_000469.3:p.Arg71His
NM_001127501.2:c.47G>A	NP_001120973.2:p.Arg16His
NM_001177520.1:c.66+382G>A	NP_001170991.1:n.66+382G>A
XM_005245818.1:c.212G>A	XP_005245875.1:p.Arg71His
XM_005245820.2:c.212G>A	XP_005245877.1:p.Arg71His
XM_006710546.1:c.212G>A	XP_006710609.1:p.Arg71His
NM_000478.5:c.212G>A	NP_000469.3:p.Arg71His
NM_001127501.3:c.47G>A	NP_001120973.2:p.Arg16His
NM_001177520.2:c.66+382G>A	NP_001170991.1:n.66+382G>A
XM_006710546.3:c.212G>A	XP_006710609.1:p.Arg71His
XM_017000903.1:c.67-11G>A	XP_016856392.1:n.67-11G>A
NM_000478.6:c.212G>A MANE Select	NP_000469.3:p.Arg71His
NM_001127501.4:c.47G>A	NP_001120973.2:p.Arg16His
NM_001177520.3:c.66+382G>A	NP_001170991.1:n.66+382G>A
NM_001369803.2:c.212G>A	NP_001356732.1:p.Arg71His
NM_001369804.2:c.212G>A	NP_001356733.1:p.Arg71His
NM_001369805.2:c.212G>A	NP_001356734.1:p.Arg71His