Canonical Allele Identifier: CA666603
Community Standard Title: NM_000478.6(ALPL):c.782C>T (p.Pro261Leu)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21568237C>T , CM000663.2:g.21568237C>T GRCh38
NC_000001.10:g.21894730C>T , CM000663.1:g.21894730C>T GRCh37
NC_000001.9:g.21767317C>T NCBI36
NG_008940.1:g.63873C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.782C>T MANE Select NP_000469.3:p.Pro261Leu
ENST00000374840.8:c.782C>T MANE Select ENSP00000363973.3:p.Pro261Leu
NM_000478.4:c.782C>T NP_000469.3:p.Pro261Leu
NM_000478.5:c.782C>T NP_000469.3:p.Pro261Leu
NM_001127501.2:c.617C>T NP_001120973.2:p.Pro206Leu
NM_001127501.3:c.617C>T NP_001120973.2:p.Pro206Leu
NM_001127501.4:c.617C>T NP_001120973.2:p.Pro206Leu
NM_001177520.1:c.551C>T NP_001170991.1:p.Pro184Leu
NM_001177520.2:c.551C>T NP_001170991.1:p.Pro184Leu
NM_001177520.3:c.551C>T NP_001170991.1:p.Pro184Leu
NM_001369803.2:c.782C>T NP_001356732.1:p.Pro261Leu
NM_001369804.2:c.782C>T NP_001356733.1:p.Pro261Leu
NM_001369805.2:c.782C>T NP_001356734.1:p.Pro261Leu
ENST00000374832.5:c.782C>T ENSP00000363965.1:p.Pro261Leu
ENST00000374840.7:c.782C>T ENSP00000363973.3:p.Pro261Leu
ENST00000539907.5:c.551C>T ENSP00000437674.1:p.Pro184Leu
ENST00000540617.5:c.617C>T ENSP00000442672.1:p.Pro206Leu
XM_005245818.1:c.782C>T XP_005245875.1:p.Pro261Leu
XM_005245820.2:c.782C>T XP_005245877.1:p.Pro261Leu
XM_006710546.1:c.782C>T XP_006710609.1:p.Pro261Leu
XM_006710546.3:c.782C>T XP_006710609.1:p.Pro261Leu
XM_017000903.1:c.626C>T XP_016856392.1:p.Pro209Leu