Canonical Allele Identifier: CA666411
Gene: ALPL HGNC NCBI

Linked Data

dbSNP Id: rs753763521
gnomAD v2: 1-21887228-C-T
gnomAD v4: 1-21560735-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21560735C>T , CM000663.2:g.21560735C>T GRCh38
NC_000001.10:g.21887228C>T , CM000663.1:g.21887228C>T GRCh37
NC_000001.9:g.21759815C>T NCBI36
NG_008940.1:g.56371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.171C>T MANE Select ENSP00000363973.3:p.Phe57=
ENST00000374832.5:c.171C>T ENSP00000363965.1:p.Phe57=
ENST00000374840.7:c.171C>T ENSP00000363973.3:p.Phe57=
ENST00000468526.1:n.231C>T
ENST00000539907.5:c.56C>T ENSP00000437674.1:p.Ser19Phe
ENST00000540617.5:c.6C>T ENSP00000442672.1:p.Phe2=
NM_000478.4:c.171C>T NP_000469.3:p.Phe57=
NM_001127501.2:c.6C>T NP_001120973.2:p.Phe2=
NM_001177520.1:c.56C>T NP_001170991.1:p.Ser19Phe
XM_005245818.1:c.171C>T XP_005245875.1:p.Phe57=
XM_005245820.2:c.171C>T XP_005245877.1:p.Phe57=
XM_006710546.1:c.171C>T XP_006710609.1:p.Phe57=
NM_000478.5:c.171C>T NP_000469.3:p.Phe57=
NM_001127501.3:c.6C>T NP_001120973.2:p.Phe2=
NM_001177520.2:c.56C>T NP_001170991.1:p.Ser19Phe
XM_006710546.3:c.171C>T XP_006710609.1:p.Phe57=
XM_017000903.1:c.56C>T XP_016856392.1:p.Ser19Phe
NM_000478.6:c.171C>T MANE Select NP_000469.3:p.Phe57=
NM_001127501.4:c.6C>T NP_001120973.2:p.Phe2=
NM_001177520.3:c.56C>T NP_001170991.1:p.Ser19Phe
NM_001369803.2:c.171C>T NP_001356732.1:p.Phe57=
NM_001369804.2:c.171C>T NP_001356733.1:p.Phe57=
NM_001369805.2:c.171C>T NP_001356734.1:p.Phe57=