Canonical Allele Identifier: CA256936
Gene: ALPL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13684
dbSNP Id: rs121918020

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21570326C>T , CM000663.2:g.21570326C>T GRCh38
NC_000001.10:g.21896819C>T , CM000663.1:g.21896819C>T GRCh37
NC_000001.9:g.21769406C>T NCBI36
NG_008940.1:g.65962C>T

Transcript Alleles

HGVS Amino-acid change
NM_000478.4:c.814C>T VV NP_000469.3:p.Arg272Cys
NM_001127501.2:c.649C>T VV NP_001120973.2:p.Arg217Cys
NM_001177520.1:c.583C>T VV NP_001170991.1:p.Arg195Cys
XM_005245818.1:c.814C>T XP_005245875.1:p.Arg272Cys
XM_005245820.2:c.814C>T XP_005245877.1:p.Arg272Cys
XM_006710546.1:c.814C>T XP_006710609.1:p.Arg272Cys
NM_000478.5:c.814C>T VV NP_000469.3:p.Arg272Cys
NM_001127501.3:c.649C>T VV NP_001120973.2:p.Arg217Cys
NM_001177520.2:c.583C>T VV NP_001170991.1:p.Arg195Cys
XM_006710546.3:c.814C>T XP_006710609.1:p.Arg272Cys
XM_017000903.1:n.658C>T XP_016856392.1:p.Arg220Cys
NM_000478.6:c.814C>T VV MANE Preferred NP_000469.3:p.Arg272Cys
ENST00000374830.2:n.24C>T
ENST00000374832.5:c.814C>T ENSP00000363965.1:p.Arg272Cys
ENST00000374840.7:c.814C>T ENSP00000363973.3:p.Arg272Cys
ENST00000539907.5:c.583C>T ENSP00000437674.1:p.Arg195Cys
ENST00000540617.5:c.649C>T ENSP00000442672.1:p.Arg217Cys