Canonical Allele Identifier: CA666487
Community Standard Title: NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21563271G>A , CM000663.2:g.21563271G>A GRCh38
NC_000001.10:g.21889764G>A , CM000663.1:g.21889764G>A GRCh37
NC_000001.9:g.21762351G>A NCBI36
NG_008940.1:g.58907G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.459G>A MANE Select NP_000469.3:p.Trp153Ter
ENST00000374840.8:c.459G>A MANE Select ENSP00000363973.3:p.Trp153Ter
NM_000478.4:c.459G>A NP_000469.3:p.Trp153Ter
NM_000478.5:c.459G>A NP_000469.3:p.Trp153Ter
NM_001127501.2:c.294G>A NP_001120973.2:p.Trp98Ter
NM_001127501.3:c.294G>A NP_001120973.2:p.Trp98Ter
NM_001127501.4:c.294G>A NP_001120973.2:p.Trp98Ter
NM_001177520.1:c.228G>A NP_001170991.1:p.Trp76Ter
NM_001177520.2:c.228G>A NP_001170991.1:p.Trp76Ter
NM_001177520.3:c.228G>A NP_001170991.1:p.Trp76Ter
NM_001369803.2:c.459G>A NP_001356732.1:p.Trp153Ter
NM_001369804.2:c.459G>A NP_001356733.1:p.Trp153Ter
NM_001369805.2:c.459G>A NP_001356734.1:p.Trp153Ter
ENST00000374832.5:c.459G>A ENSP00000363965.1:p.Trp153Ter
ENST00000374840.7:c.459G>A ENSP00000363973.3:p.Trp153Ter
ENST00000468526.1:n.519G>A
ENST00000539907.5:c.228G>A ENSP00000437674.1:p.Trp76Ter
ENST00000540617.5:c.294G>A ENSP00000442672.1:p.Trp98Ter
XM_005245818.1:c.459G>A XP_005245875.1:p.Trp153Ter
XM_005245820.2:c.459G>A XP_005245877.1:p.Trp153Ter
XM_006710546.1:c.459G>A XP_006710609.1:p.Trp153Ter
XM_006710546.3:c.459G>A XP_006710609.1:p.Trp153Ter
XM_017000903.1:c.303G>A XP_016856392.1:p.Trp101Ter