Canonical Allele Identifier: CA666409
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1708611
ClinVar RCV Id: RCV002290920
dbSNP Id: rs760272172
gnomAD v2: 1-21887223-A-G
gnomAD v4: 1-21560730-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21560730A>G , CM000663.2:g.21560730A>G GRCh38
NC_000001.10:g.21887223A>G , CM000663.1:g.21887223A>G GRCh37
NC_000001.9:g.21759810A>G NCBI36
NG_008940.1:g.56366A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.166A>G MANE Select ENSP00000363973.3:p.Met56Val
ENST00000374832.5:c.166A>G ENSP00000363965.1:p.Met56Val
ENST00000374840.7:c.166A>G ENSP00000363973.3:p.Met56Val
ENST00000468526.1:n.226A>G
ENST00000539907.5:c.51A>G ENSP00000437674.1:p.Ser17=
ENST00000540617.5:c.1A>G ENSP00000442672.1:p.Met1Val
NM_000478.4:c.166A>G NP_000469.3:p.Met56Val
NM_001127501.2:c.1A>G NP_001120973.2:p.Met1Val
NM_001177520.1:c.51A>G NP_001170991.1:p.Ser17=
XM_005245818.1:c.166A>G XP_005245875.1:p.Met56Val
XM_005245820.2:c.166A>G XP_005245877.1:p.Met56Val
XM_006710546.1:c.166A>G XP_006710609.1:p.Met56Val
NM_000478.5:c.166A>G NP_000469.3:p.Met56Val
NM_001127501.3:c.1A>G NP_001120973.2:p.Met1Val
NM_001177520.2:c.51A>G NP_001170991.1:p.Ser17=
XM_006710546.3:c.166A>G XP_006710609.1:p.Met56Val
XM_017000903.1:c.51A>G XP_016856392.1:p.Ser17=
NM_000478.6:c.166A>G MANE Select NP_000469.3:p.Met56Val
NM_001127501.4:c.1A>G NP_001120973.2:p.Met1Val
NM_001177520.3:c.51A>G NP_001170991.1:p.Ser17=
NM_001369803.2:c.166A>G NP_001356732.1:p.Met56Val
NM_001369804.2:c.166A>G NP_001356733.1:p.Met56Val
NM_001369805.2:c.166A>G NP_001356734.1:p.Met56Val