Canonical Allele Identifier: CA1158019330
Community Standard Title: NM_000478.6(ALPL):c.1144G= (p.Val382=)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21575879G= , CM000663.2:g.21575879G= GRCh38
NC_000001.10:g.21902372G= , CM000663.1:g.21902372G= GRCh37
NC_000001.9:g.21774959G= NCBI36
NG_008940.1:g.71515G=

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.1144G= MANE Select NP_000469.3:p.Val382=
ENST00000374840.8:c.1144G= MANE Select ENSP00000363973.3:p.Val382=
NM_000478.4:c.1144G= NP_000469.3:p.Val382=
NM_000478.5:c.1144G= NP_000469.3:p.Val382=
NM_001127501.2:c.979G= NP_001120973.2:p.Val327=
NM_001127501.3:c.979G= NP_001120973.2:p.Val327=
NM_001127501.4:c.979G= NP_001120973.2:p.Val327=
NM_001177520.1:c.913G= NP_001170991.1:p.Val305=
NM_001177520.2:c.913G= NP_001170991.1:p.Val305=
NM_001177520.3:c.913G= NP_001170991.1:p.Val305=
NM_001369803.2:c.1144G= NP_001356732.1:p.Val382=
NM_001369804.2:c.1144G= NP_001356733.1:p.Val382=
NM_001369805.2:c.1144G= NP_001356734.1:p.Val382=
ENST00000374829.2:n.413G=
ENST00000374830.2:c.219G=
ENST00000374832.5:c.1144G= ENSP00000363965.1:p.Val382=
ENST00000374840.7:c.1144G= ENSP00000363973.3:p.Val382=
ENST00000539907.5:c.913G= ENSP00000437674.1:p.Val305=
ENST00000540617.5:c.979G= ENSP00000442672.1:p.Val327=
XM_005245818.1:c.1144G= XP_005245875.1:p.Val382=
XM_006710546.1:c.1144G= XP_006710609.1:p.Val382=
XM_006710546.3:c.1144G= XP_006710609.1:p.Val382=
XM_017000903.1:c.988G= XP_016856392.1:p.Val330=