Canonical Allele Identifier: CA123350

Gene: ALPL

Linked Data

• ClinVar Variation Id: 13682
• ClinVar RCV Id: RCV000014675 ; RCV000014676 ; RCV000668001 ; RCV000723607 ; RCV001826462
• dbSNP Id: rs121918018
• gnomAD v2: 1-21894694-G-T
• gnomAD v3: 1-21568201-G-T
• gnomAD v4: 1-21568201-G-T
• MyVariant Identifiers: chr1:g.21894694G>T (hg19) ; chr1:g.21568201G>T (hg38)
• PubMed: PMID:11479741 ; PMID:18340466

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21568201G>T , CM000663.2:g.21568201G>T	GRCh38
NC_000001.10:g.21894694G>T , CM000663.1:g.21894694G>T	GRCh37
NC_000001.9:g.21767281G>T	NCBI36
NG_008940.1:g.63837G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.746G>T MANE Select	ENSP00000363973.3:p.Gly249Val
ENST00000374832.5:c.746G>T	ENSP00000363965.1:p.Gly249Val
ENST00000374840.7:c.746G>T	ENSP00000363973.3:p.Gly249Val
ENST00000539907.5:c.515G>T	ENSP00000437674.1:p.Gly172Val
ENST00000540617.5:c.581G>T	ENSP00000442672.1:p.Gly194Val
NM_000478.4:c.746G>T	NP_000469.3:p.Gly249Val
NM_001127501.2:c.581G>T	NP_001120973.2:p.Gly194Val
NM_001177520.1:c.515G>T	NP_001170991.1:p.Gly172Val
XM_005245818.1:c.746G>T	XP_005245875.1:p.Gly249Val
XM_005245820.2:c.746G>T	XP_005245877.1:p.Gly249Val
XM_006710546.1:c.746G>T	XP_006710609.1:p.Gly249Val
NM_000478.5:c.746G>T	NP_000469.3:p.Gly249Val
NM_001127501.3:c.581G>T	NP_001120973.2:p.Gly194Val
NM_001177520.2:c.515G>T	NP_001170991.1:p.Gly172Val
XM_006710546.3:c.746G>T	XP_006710609.1:p.Gly249Val
XM_017000903.1:c.590G>T	XP_016856392.1:p.Gly197Val
NM_000478.6:c.746G>T MANE Select	NP_000469.3:p.Gly249Val
NM_001127501.4:c.581G>T	NP_001120973.2:p.Gly194Val
NM_001177520.3:c.515G>T	NP_001170991.1:p.Gly172Val
NM_001369803.2:c.746G>T	NP_001356732.1:p.Gly249Val
NM_001369804.2:c.746G>T	NP_001356733.1:p.Gly249Val
NM_001369805.2:c.746G>T	NP_001356734.1:p.Gly249Val