Canonical Allele Identifier: CA666434
Gene: ALPL HGNC NCBI

Linked Data

dbSNP Id: rs121918001
gnomAD v4: 1-21561126-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21561126C>A , CM000663.2:g.21561126C>A GRCh38
NC_000001.10:g.21887619C>A , CM000663.1:g.21887619C>A GRCh37
NC_000001.9:g.21760206C>A NCBI36
NG_008940.1:g.56762C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374840.8:c.211C>A MANE Select ENSP00000363973.3:p.Arg71Ser
ENST00000374832.5:c.211C>A ENSP00000363965.1:p.Arg71Ser
ENST00000374840.7:c.211C>A ENSP00000363973.3:p.Arg71Ser
ENST00000468526.1:n.271C>A
ENST00000539907.5:c.66+381C>A ENSP00000437674.1:n.66+381C>A
ENST00000540617.5:c.46C>A ENSP00000442672.1:p.Arg16Ser
NM_000478.4:c.211C>A NP_000469.3:p.Arg71Ser
NM_001127501.2:c.46C>A NP_001120973.2:p.Arg16Ser
NM_001177520.1:c.66+381C>A NP_001170991.1:n.66+381C>A
XM_005245818.1:c.211C>A XP_005245875.1:p.Arg71Ser
XM_005245820.2:c.211C>A XP_005245877.1:p.Arg71Ser
XM_006710546.1:c.211C>A XP_006710609.1:p.Arg71Ser
NM_000478.5:c.211C>A NP_000469.3:p.Arg71Ser
NM_001127501.3:c.46C>A NP_001120973.2:p.Arg16Ser
NM_001177520.2:c.66+381C>A NP_001170991.1:n.66+381C>A
XM_006710546.3:c.211C>A XP_006710609.1:p.Arg71Ser
XM_017000903.1:c.67-12C>A XP_016856392.1:n.67-12C>A
NM_000478.6:c.211C>A MANE Select NP_000469.3:p.Arg71Ser
NM_001127501.4:c.46C>A NP_001120973.2:p.Arg16Ser
NM_001177520.3:c.66+381C>A NP_001170991.1:n.66+381C>A
NM_001369803.2:c.211C>A NP_001356732.1:p.Arg71Ser
NM_001369804.2:c.211C>A NP_001356733.1:p.Arg71Ser
NM_001369805.2:c.211C>A NP_001356734.1:p.Arg71Ser