Canonical Allele Identifier: CA273965

Gene: ALPL

Linked Data

• ClinVar Variation Id: 188792
• ClinVar RCV Id: RCV000169122 ; RCV002515193
• dbSNP Id: rs786204473
• gnomAD v2: 1-21900166-G-A
• gnomAD v4: 1-21573673-G-A
• MyVariant Identifiers: chr1:g.21900166G>A (hg19) ; chr1:g.21573673G>A (hg38)
• PubMed: PMID:9781036 ; PMID:10332035 ; PMID:11999978

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573673G>A , CM000663.2:g.21573673G>A	GRCh38
NC_000001.10:g.21900166G>A , CM000663.1:g.21900166G>A	GRCh37
NC_000001.9:g.21772753G>A	NCBI36
NG_008940.1:g.69309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.871G>A MANE Select	ENSP00000363973.3:p.Glu291Lys
ENST00000374830.2:c.73-2060G>A
ENST00000374832.5:c.871G>A	ENSP00000363965.1:p.Glu291Lys
ENST00000374840.7:c.871G>A	ENSP00000363973.3:p.Glu291Lys
ENST00000539907.5:c.640G>A	ENSP00000437674.1:p.Glu214Lys
ENST00000540617.5:c.706G>A	ENSP00000442672.1:p.Glu236Lys
NM_000478.4:c.871G>A	NP_000469.3:p.Glu291Lys
NM_001127501.2:c.706G>A	NP_001120973.2:p.Glu236Lys
NM_001177520.1:c.640G>A	NP_001170991.1:p.Glu214Lys
XM_005245818.1:c.871G>A	XP_005245875.1:p.Glu291Lys
XM_005245820.2:c.871G>A	XP_005245877.1:p.Glu291Lys
XM_006710546.1:c.871G>A	XP_006710609.1:p.Glu291Lys
NM_000478.5:c.871G>A	NP_000469.3:p.Glu291Lys
NM_001127501.3:c.706G>A	NP_001120973.2:p.Glu236Lys
NM_001177520.2:c.640G>A	NP_001170991.1:p.Glu214Lys
XM_006710546.3:c.871G>A	XP_006710609.1:p.Glu291Lys
XM_017000903.1:c.715G>A	XP_016856392.1:p.Glu239Lys
NM_000478.6:c.871G>A MANE Select	NP_000469.3:p.Glu291Lys
NM_001127501.4:c.706G>A	NP_001120973.2:p.Glu236Lys
NM_001177520.3:c.640G>A	NP_001170991.1:p.Glu214Lys
NM_001369803.2:c.871G>A	NP_001356732.1:p.Glu291Lys
NM_001369804.2:c.871G>A	NP_001356733.1:p.Glu291Lys
NM_001369805.2:c.871G>A	NP_001356734.1:p.Glu291Lys