Canonical Allele Identifier: CA338881005
Community Standard Title: NM_000478.6(ALPL):c.1018C>T (p.His340Tyr)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21575753C>T , CM000663.2:g.21575753C>T GRCh38
NC_000001.10:g.21902246C>T , CM000663.1:g.21902246C>T GRCh37
NC_000001.9:g.21774833C>T NCBI36
NG_008940.1:g.71389C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.1018C>T MANE Select NP_000469.3:p.His340Tyr
ENST00000374840.8:c.1018C>T MANE Select ENSP00000363973.3:p.His340Tyr
NM_000478.4:c.1018C>T NP_000469.3:p.His340Tyr
NM_000478.5:c.1018C>T NP_000469.3:p.His340Tyr
NM_001127501.2:c.853C>T NP_001120973.2:p.His285Tyr
NM_001127501.3:c.853C>T NP_001120973.2:p.His285Tyr
NM_001127501.4:c.853C>T NP_001120973.2:p.His285Tyr
NM_001177520.1:c.787C>T NP_001170991.1:p.His263Tyr
NM_001177520.2:c.787C>T NP_001170991.1:p.His263Tyr
NM_001177520.3:c.787C>T NP_001170991.1:p.His263Tyr
NM_001369803.2:c.1018C>T NP_001356732.1:p.His340Tyr
NM_001369804.2:c.1018C>T NP_001356733.1:p.His340Tyr
NM_001369805.2:c.1018C>T NP_001356734.1:p.His340Tyr
ENST00000374829.2:n.287C>T
ENST00000374830.2:c.93C>T
ENST00000374832.5:c.1018C>T ENSP00000363965.1:p.His340Tyr
ENST00000374840.7:c.1018C>T ENSP00000363973.3:p.His340Tyr
ENST00000539907.5:c.787C>T ENSP00000437674.1:p.His263Tyr
ENST00000540617.5:c.853C>T ENSP00000442672.1:p.His285Tyr
XM_005245818.1:c.1018C>T XP_005245875.1:p.His340Tyr
XM_006710546.1:c.1018C>T XP_006710609.1:p.His340Tyr
XM_006710546.3:c.1018C>T XP_006710609.1:p.His340Tyr
XM_017000903.1:c.862C>T XP_016856392.1:p.His288Tyr