Canonical Allele Identifier: CA1141580634
Community Standard Title: NM_000478.6(ALPL):c.346G= (p.Ala116=)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21563158G= , CM000663.2:g.21563158G= GRCh38
NC_000001.10:g.21889651G= , CM000663.1:g.21889651G= GRCh37
NC_000001.9:g.21762238G= NCBI36
NG_008940.1:g.58794G=

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.346G= MANE Select NP_000469.3:p.Ala116=
ENST00000374840.8:c.346G= MANE Select ENSP00000363973.3:p.Ala116=
NM_000478.4:c.346G= NP_000469.3:p.Ala116=
NM_000478.5:c.346G= NP_000469.3:p.Ala116=
NM_001127501.2:c.181G= NP_001120973.2:p.Ala61=
NM_001127501.3:c.181G= NP_001120973.2:p.Ala61=
NM_001127501.4:c.181G= NP_001120973.2:p.Ala61=
NM_001177520.1:c.115G= NP_001170991.1:p.Ala39=
NM_001177520.2:c.115G= NP_001170991.1:p.Ala39=
NM_001177520.3:c.115G= NP_001170991.1:p.Ala39=
NM_001369803.2:c.346G= NP_001356732.1:p.Ala116=
NM_001369804.2:c.346G= NP_001356733.1:p.Ala116=
NM_001369805.2:c.346G= NP_001356734.1:p.Ala116=
ENST00000374832.5:c.346G= ENSP00000363965.1:p.Ala116=
ENST00000374840.7:c.346G= ENSP00000363973.3:p.Ala116=
ENST00000468526.1:n.406G=
ENST00000539907.5:c.115G= ENSP00000437674.1:p.Ala39=
ENST00000540617.5:c.181G= ENSP00000442672.1:p.Ala61=
XM_005245818.1:c.346G= XP_005245875.1:p.Ala116=
XM_005245820.2:c.346G= XP_005245877.1:p.Ala116=
XM_006710546.1:c.346G= XP_006710609.1:p.Ala116=
XM_006710546.3:c.346G= XP_006710609.1:p.Ala116=
XM_017000903.1:c.190G= XP_016856392.1:p.Ala64=