Canonical Allele Identifier: CA256929

Gene: ALPL

Linked Data

• ClinVar Variation Id: 13672
• ClinVar RCV Id: RCV000014663 ; RCV000207270 ; RCV000224376 ; RCV000763301 ; RCV000786923 ; RCV002276547 ; RCV004549365
• dbSNP Id: rs121918009
• gnomAD v4: 1-21575736-G-A
• MyVariant Identifiers: chr1:g.21902229G>A (hg19) ; chr1:g.21575736G>A (hg38)
• PubMed: PMID:8406453 ; PMID:9618260 ; PMID:9781036 ; PMID:12638946 ; PMID:15694177 ; PMID:18769927 ; PMID:19500388 ; PMID:20301329 ; PMID:22397652 ; PMID:24569605

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575736G>A , CM000663.2:g.21575736G>A	GRCh38
NC_000001.10:g.21902229G>A , CM000663.1:g.21902229G>A	GRCh37
NC_000001.9:g.21774816G>A	NCBI36
NG_008940.1:g.71372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1001G>A MANE Select	ENSP00000363973.3:p.Gly334Asp
ENST00000374829.2:n.270G>A
ENST00000374830.2:c.76G>A
ENST00000374832.5:c.1001G>A	ENSP00000363965.1:p.Gly334Asp
ENST00000374840.7:c.1001G>A	ENSP00000363973.3:p.Gly334Asp
ENST00000539907.5:c.770G>A	ENSP00000437674.1:p.Gly257Asp
ENST00000540617.5:c.836G>A	ENSP00000442672.1:p.Gly279Asp
NM_000478.4:c.1001G>A	NP_000469.3:p.Gly334Asp
NM_001127501.2:c.836G>A	NP_001120973.2:p.Gly279Asp
NM_001177520.1:c.770G>A	NP_001170991.1:p.Gly257Asp
XM_005245818.1:c.1001G>A	XP_005245875.1:p.Gly334Asp
XM_006710546.1:c.1001G>A	XP_006710609.1:p.Gly334Asp
NM_000478.5:c.1001G>A	NP_000469.3:p.Gly334Asp
NM_001127501.3:c.836G>A	NP_001120973.2:p.Gly279Asp
NM_001177520.2:c.770G>A	NP_001170991.1:p.Gly257Asp
XM_006710546.3:c.1001G>A	XP_006710609.1:p.Gly334Asp
XM_017000903.1:c.845G>A	XP_016856392.1:p.Gly282Asp
NM_000478.6:c.1001G>A MANE Select	NP_000469.3:p.Gly334Asp
NM_001127501.4:c.836G>A	NP_001120973.2:p.Gly279Asp
NM_001177520.3:c.770G>A	NP_001170991.1:p.Gly257Asp
NM_001369803.2:c.1001G>A	NP_001356732.1:p.Gly334Asp
NM_001369804.2:c.1001G>A	NP_001356733.1:p.Gly334Asp
NM_001369805.2:c.1001G>A	NP_001356734.1:p.Gly334Asp