Canonical Allele Identifier: CA666442
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 427763
dbSNP Id: rs139811782
gnomAD v2: 1-21887691-G-A
gnomAD v3: 1-21561198-G-A
gnomAD v4: 1-21561198-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21561198G>A , CM000663.2:g.21561198G>A GRCh38
NC_000001.10:g.21887691G>A , CM000663.1:g.21887691G>A GRCh37
NC_000001.9:g.21760278G>A NCBI36
NG_008940.1:g.56834G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.283G>A MANE Select ENSP00000363973.3:p.Val95Met
ENST00000374832.5:c.283G>A ENSP00000363965.1:p.Val95Met
ENST00000374840.7:c.283G>A ENSP00000363973.3:p.Val95Met
ENST00000468526.1:n.343G>A
ENST00000539907.5:c.66+453G>A ENSP00000437674.1:n.66+453G>A
ENST00000540617.5:c.118G>A ENSP00000442672.1:p.Val40Met
NM_000478.4:c.283G>A NP_000469.3:p.Val95Met
NM_001127501.2:c.118G>A NP_001120973.2:p.Val40Met
NM_001177520.1:c.66+453G>A NP_001170991.1:n.66+453G>A
XM_005245818.1:c.283G>A XP_005245875.1:p.Val95Met
XM_005245820.2:c.283G>A XP_005245877.1:p.Val95Met
XM_006710546.1:c.283G>A XP_006710609.1:p.Val95Met
NM_000478.5:c.283G>A NP_000469.3:p.Val95Met
NM_001127501.3:c.118G>A NP_001120973.2:p.Val40Met
NM_001177520.2:c.66+453G>A NP_001170991.1:n.66+453G>A
XM_006710546.3:c.283G>A XP_006710609.1:p.Val95Met
XM_017000903.1:c.127G>A XP_016856392.1:p.Val43Met
NM_000478.6:c.283G>A MANE Select NP_000469.3:p.Val95Met
NM_001127501.4:c.118G>A NP_001120973.2:p.Val40Met
NM_001177520.3:c.66+453G>A NP_001170991.1:n.66+453G>A
NM_001369803.2:c.283G>A NP_001356732.1:p.Val95Met
NM_001369804.2:c.283G>A NP_001356733.1:p.Val95Met
NM_001369805.2:c.283G>A NP_001356734.1:p.Val95Met