Canonical Allele Identifier: CA666440
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 835159
dbSNP Id: rs779180929
gnomAD v2: 1-21887678-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21561185C>G , CM000663.2:g.21561185C>G GRCh38
NC_000001.10:g.21887678C>G , CM000663.1:g.21887678C>G GRCh37
NC_000001.9:g.21760265C>G NCBI36
NG_008940.1:g.56821C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.270C>G MANE Select ENSP00000363973.3:p.Asp90Glu
ENST00000374832.5:c.270C>G ENSP00000363965.1:p.Asp90Glu
ENST00000374840.7:c.270C>G ENSP00000363973.3:p.Asp90Glu
ENST00000468526.1:n.330C>G
ENST00000539907.5:c.66+440C>G ENSP00000437674.1:n.66+440C>G
ENST00000540617.5:c.105C>G ENSP00000442672.1:p.Asp35Glu
NM_000478.4:c.270C>G NP_000469.3:p.Asp90Glu
NM_001127501.2:c.105C>G NP_001120973.2:p.Asp35Glu
NM_001177520.1:c.66+440C>G NP_001170991.1:n.66+440C>G
XM_005245818.1:c.270C>G XP_005245875.1:p.Asp90Glu
XM_005245820.2:c.270C>G XP_005245877.1:p.Asp90Glu
XM_006710546.1:c.270C>G XP_006710609.1:p.Asp90Glu
NM_000478.5:c.270C>G NP_000469.3:p.Asp90Glu
NM_001127501.3:c.105C>G NP_001120973.2:p.Asp35Glu
NM_001177520.2:c.66+440C>G NP_001170991.1:n.66+440C>G
XM_006710546.3:c.270C>G XP_006710609.1:p.Asp90Glu
XM_017000903.1:c.114C>G XP_016856392.1:p.Asp38Glu
NM_000478.6:c.270C>G MANE Select NP_000469.3:p.Asp90Glu
NM_001127501.4:c.105C>G NP_001120973.2:p.Asp35Glu
NM_001177520.3:c.66+440C>G NP_001170991.1:n.66+440C>G
NM_001369803.2:c.270C>G NP_001356732.1:p.Asp90Glu
NM_001369804.2:c.270C>G NP_001356733.1:p.Asp90Glu
NM_001369805.2:c.270C>G NP_001356734.1:p.Asp90Glu