Canonical Allele Identifier: CA666675
Gene: ALPL HGNC NCBI

Linked Data

dbSNP Id: rs560308330
gnomAD v2: 1-21900201-C-G
gnomAD v4: 1-21573708-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21573708C>G , CM000663.2:g.21573708C>G GRCh38
NC_000001.10:g.21900201C>G , CM000663.1:g.21900201C>G GRCh37
NC_000001.9:g.21772788C>G NCBI36
NG_008940.1:g.69344C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.906C>G MANE Select ENSP00000363973.3:p.Asn302Lys
ENST00000374830.2:c.73-2025C>G
ENST00000374832.5:c.906C>G ENSP00000363965.1:p.Asn302Lys
ENST00000374840.7:c.906C>G ENSP00000363973.3:p.Asn302Lys
ENST00000539907.5:c.675C>G ENSP00000437674.1:p.Asn225Lys
ENST00000540617.5:c.741C>G ENSP00000442672.1:p.Asn247Lys
NM_000478.4:c.906C>G NP_000469.3:p.Asn302Lys
NM_001127501.2:c.741C>G NP_001120973.2:p.Asn247Lys
NM_001177520.1:c.675C>G NP_001170991.1:p.Asn225Lys
XM_005245818.1:c.906C>G XP_005245875.1:p.Asn302Lys
XM_005245820.2:c.906C>G XP_005245877.1:p.Asn302Lys
XM_006710546.1:c.906C>G XP_006710609.1:p.Asn302Lys
NM_000478.5:c.906C>G NP_000469.3:p.Asn302Lys
NM_001127501.3:c.741C>G NP_001120973.2:p.Asn247Lys
NM_001177520.2:c.675C>G NP_001170991.1:p.Asn225Lys
XM_006710546.3:c.906C>G XP_006710609.1:p.Asn302Lys
XM_017000903.1:c.750C>G XP_016856392.1:p.Asn250Lys
NM_000478.6:c.906C>G MANE Select NP_000469.3:p.Asn302Lys
NM_001127501.4:c.741C>G NP_001120973.2:p.Asn247Lys
NM_001177520.3:c.675C>G NP_001170991.1:p.Asn225Lys
NM_001369803.2:c.906C>G NP_001356732.1:p.Asn302Lys
NM_001369804.2:c.906C>G NP_001356733.1:p.Asn302Lys
NM_001369805.2:c.906C>G NP_001356734.1:p.Asn302Lys