Canonical Allele Identifier: CA273908

Gene: ALPL

Linked Data

• ClinVar Variation Id: 188750
• ClinVar RCV Id: RCV000169064 ; RCV001264499 ; RCV001378582 ; RCV002498840 ; RCV003462263
• dbSNP Id: rs786204442
• gnomAD v2: 1-21894739-A-G
• gnomAD v3: 1-21568246-A-G
• gnomAD v4: 1-21568246-A-G
• MyVariant Identifiers: chr1:g.21894739A>G (hg19) ; chr1:g.21568246A>G (hg38)
• PubMed: PMID:17922851

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21568246A>G , CM000663.2:g.21568246A>G	GRCh38
NC_000001.10:g.21894739A>G , CM000663.1:g.21894739A>G	GRCh37
NC_000001.9:g.21767326A>G	NCBI36
NG_008940.1:g.63882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.791A>G MANE Select	ENSP00000363973.3:p.Lys264Arg
ENST00000374832.5:c.791A>G	ENSP00000363965.1:p.Lys264Arg
ENST00000374840.7:c.791A>G	ENSP00000363973.3:p.Lys264Arg
ENST00000539907.5:c.560A>G	ENSP00000437674.1:p.Lys187Arg
ENST00000540617.5:c.626A>G	ENSP00000442672.1:p.Lys209Arg
NM_000478.4:c.791A>G	NP_000469.3:p.Lys264Arg
NM_001127501.2:c.626A>G	NP_001120973.2:p.Lys209Arg
NM_001177520.1:c.560A>G	NP_001170991.1:p.Lys187Arg
XM_005245818.1:c.791A>G	XP_005245875.1:p.Lys264Arg
XM_005245820.2:c.791A>G	XP_005245877.1:p.Lys264Arg
XM_006710546.1:c.791A>G	XP_006710609.1:p.Lys264Arg
NM_000478.5:c.791A>G	NP_000469.3:p.Lys264Arg
NM_001127501.3:c.626A>G	NP_001120973.2:p.Lys209Arg
NM_001177520.2:c.560A>G	NP_001170991.1:p.Lys187Arg
XM_006710546.3:c.791A>G	XP_006710609.1:p.Lys264Arg
XM_017000903.1:c.635A>G	XP_016856392.1:p.Lys212Arg
NM_000478.6:c.791A>G MANE Select	NP_000469.3:p.Lys264Arg
NM_001127501.4:c.626A>G	NP_001120973.2:p.Lys209Arg
NM_001177520.3:c.560A>G	NP_001170991.1:p.Lys187Arg
NM_001369803.2:c.791A>G	NP_001356732.1:p.Lys264Arg
NM_001369804.2:c.791A>G	NP_001356733.1:p.Lys264Arg
NM_001369805.2:c.791A>G	NP_001356734.1:p.Lys264Arg