Canonical Allele Identifier: CA666626

Gene: ALPL

Linked Data

• ClinVar Variation Id: 495882
• ClinVar RCV Id: RCV000587658 ; RCV000674432 ; RCV001597180 ; RCV002279370 ; RCV003459459
• dbSNP Id: rs781272386
• ExAC: 1:21896820 G / A
• gnomAD v2: 1-21896820-G-A
• gnomAD v3: 1-21570327-G-A
• gnomAD v4: 1-21570327-G-A
• COSMIC: COSM5189117
• MyVariant Identifiers: chr1:g.21896820G>A (hg19) ; chr1:g.21570327G>A (hg38)
• PubMed: PMID:15694177 ; PMID:19500388

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21570327G>A , CM000663.2:g.21570327G>A	GRCh38
NC_000001.10:g.21896820G>A , CM000663.1:g.21896820G>A	GRCh37
NC_000001.9:g.21769407G>A	NCBI36
NG_008940.1:g.65963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.815G>A MANE Select	ENSP00000363973.3:p.Arg272His
ENST00000374830.2:c.25G>A
ENST00000374832.5:c.815G>A	ENSP00000363965.1:p.Arg272His
ENST00000374840.7:c.815G>A	ENSP00000363973.3:p.Arg272His
ENST00000539907.5:c.584G>A	ENSP00000437674.1:p.Arg195His
ENST00000540617.5:c.650G>A	ENSP00000442672.1:p.Arg217His
NM_000478.4:c.815G>A	NP_000469.3:p.Arg272His
NM_001127501.2:c.650G>A	NP_001120973.2:p.Arg217His
NM_001177520.1:c.584G>A	NP_001170991.1:p.Arg195His
XM_005245818.1:c.815G>A	XP_005245875.1:p.Arg272His
XM_005245820.2:c.815G>A	XP_005245877.1:p.Arg272His
XM_006710546.1:c.815G>A	XP_006710609.1:p.Arg272His
NM_000478.5:c.815G>A	NP_000469.3:p.Arg272His
NM_001127501.3:c.650G>A	NP_001120973.2:p.Arg217His
NM_001177520.2:c.584G>A	NP_001170991.1:p.Arg195His
XM_006710546.3:c.815G>A	XP_006710609.1:p.Arg272His
XM_017000903.1:c.659G>A	XP_016856392.1:p.Arg220His
NM_000478.6:c.815G>A MANE Select	NP_000469.3:p.Arg272His
NM_001127501.4:c.650G>A	NP_001120973.2:p.Arg217His
NM_001177520.3:c.584G>A	NP_001170991.1:p.Arg195His
NM_001369803.2:c.815G>A	NP_001356732.1:p.Arg272His
NM_001369804.2:c.815G>A	NP_001356733.1:p.Arg272His
NM_001369805.2:c.815G>A	NP_001356734.1:p.Arg272His