Canonical Allele Identifier: CA338882246
Community Standard Title: NM_000478.6(ALPL):c.1451T>G (p.Met484Arg)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21577524T>G , CM000663.2:g.21577524T>G GRCh38
NC_000001.10:g.21904017T>G , CM000663.1:g.21904017T>G GRCh37
NC_000001.9:g.21776604T>G NCBI36
NG_008940.1:g.73160T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.1451T>G MANE Select NP_000469.3:p.Met484Arg
ENST00000374840.8:c.1451T>G MANE Select ENSP00000363973.3:p.Met484Arg
NM_000478.4:c.1451T>G NP_000469.3:p.Met484Arg
NM_000478.5:c.1451T>G NP_000469.3:p.Met484Arg
NM_001127501.2:c.1286T>G NP_001120973.2:p.Met429Arg
NM_001127501.3:c.1286T>G NP_001120973.2:p.Met429Arg
NM_001127501.4:c.1286T>G NP_001120973.2:p.Met429Arg
NM_001177520.1:c.1220T>G NP_001170991.1:p.Met407Arg
NM_001177520.2:c.1220T>G NP_001170991.1:p.Met407Arg
NM_001177520.3:c.1220T>G NP_001170991.1:p.Met407Arg
NM_001369803.2:c.1451T>G NP_001356732.1:p.Met484Arg
NM_001369804.2:c.1451T>G NP_001356733.1:p.Met484Arg
NM_001369805.2:c.1451T>G NP_001356734.1:p.Met484Arg
ENST00000374829.2:n.720T>G
ENST00000374830.2:c.526T>G
ENST00000374832.5:c.1451T>G ENSP00000363965.1:p.Met484Arg
ENST00000374840.7:c.1451T>G ENSP00000363973.3:p.Met484Arg
ENST00000539907.5:c.1220T>G ENSP00000437674.1:p.Met407Arg
ENST00000540617.5:c.1286T>G ENSP00000442672.1:p.Met429Arg
XM_005245818.1:c.1451T>G XP_005245875.1:p.Met484Arg
XM_006710546.1:c.1451T>G XP_006710609.1:p.Met484Arg
XM_006710546.3:c.1451T>G XP_006710609.1:p.Met484Arg
XM_017000903.1:c.1295T>G XP_016856392.1:p.Met432Arg