Canonical Allele Identifier: CA256921
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 13664
dbSNP Id: rs121918002
gnomAD v2: 1-21900176-A-C
gnomAD v3: 1-21573683-A-C
gnomAD v4: 1-21573683-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21573683A>C , CM000663.2:g.21573683A>C GRCh38
NC_000001.10:g.21900176A>C , CM000663.1:g.21900176A>C GRCh37
NC_000001.9:g.21772763A>C NCBI36
NG_008940.1:g.69319A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374840.8:c.881A>C MANE Select ENSP00000363973.3:p.Asp294Ala
ENST00000374830.2:c.73-2050A>C
ENST00000374832.5:c.881A>C ENSP00000363965.1:p.Asp294Ala
ENST00000374840.7:c.881A>C ENSP00000363973.3:p.Asp294Ala
ENST00000539907.5:c.650A>C ENSP00000437674.1:p.Asp217Ala
ENST00000540617.5:c.716A>C ENSP00000442672.1:p.Asp239Ala
NM_000478.4:c.881A>C NP_000469.3:p.Asp294Ala
NM_001127501.2:c.716A>C NP_001120973.2:p.Asp239Ala
NM_001177520.1:c.650A>C NP_001170991.1:p.Asp217Ala
XM_005245818.1:c.881A>C XP_005245875.1:p.Asp294Ala
XM_005245820.2:c.881A>C XP_005245877.1:p.Asp294Ala
XM_006710546.1:c.881A>C XP_006710609.1:p.Asp294Ala
NM_000478.5:c.881A>C NP_000469.3:p.Asp294Ala
NM_001127501.3:c.716A>C NP_001120973.2:p.Asp239Ala
NM_001177520.2:c.650A>C NP_001170991.1:p.Asp217Ala
XM_006710546.3:c.881A>C XP_006710609.1:p.Asp294Ala
XM_017000903.1:c.725A>C XP_016856392.1:p.Asp242Ala
NM_000478.6:c.881A>C MANE Select NP_000469.3:p.Asp294Ala
NM_001127501.4:c.716A>C NP_001120973.2:p.Asp239Ala
NM_001177520.3:c.650A>C NP_001170991.1:p.Asp217Ala
NM_001369803.2:c.881A>C NP_001356732.1:p.Asp294Ala
NM_001369804.2:c.881A>C NP_001356733.1:p.Asp294Ala
NM_001369805.2:c.881A>C NP_001356734.1:p.Asp294Ala