Canonical Allele Identifier: CA338882047
Community Standard Title: NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21577440G>A , CM000663.2:g.21577440G>A GRCh38
NC_000001.10:g.21903933G>A , CM000663.1:g.21903933G>A GRCh37
NC_000001.9:g.21776520G>A NCBI36
NG_008940.1:g.73076G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.1367G>A MANE Select NP_000469.3:p.Gly456Glu
ENST00000374840.8:c.1367G>A MANE Select ENSP00000363973.3:p.Gly456Glu
NM_000478.4:c.1367G>A NP_000469.3:p.Gly456Glu
NM_000478.5:c.1367G>A NP_000469.3:p.Gly456Glu
NM_001127501.2:c.1202G>A NP_001120973.2:p.Gly401Glu
NM_001127501.3:c.1202G>A NP_001120973.2:p.Gly401Glu
NM_001127501.4:c.1202G>A NP_001120973.2:p.Gly401Glu
NM_001177520.1:c.1136G>A NP_001170991.1:p.Gly379Glu
NM_001177520.2:c.1136G>A NP_001170991.1:p.Gly379Glu
NM_001177520.3:c.1136G>A NP_001170991.1:p.Gly379Glu
NM_001369803.2:c.1367G>A NP_001356732.1:p.Gly456Glu
NM_001369804.2:c.1367G>A NP_001356733.1:p.Gly456Glu
NM_001369805.2:c.1367G>A NP_001356734.1:p.Gly456Glu
ENST00000374829.2:n.636G>A
ENST00000374830.2:c.442G>A
ENST00000374832.5:c.1367G>A ENSP00000363965.1:p.Gly456Glu
ENST00000374840.7:c.1367G>A ENSP00000363973.3:p.Gly456Glu
ENST00000539907.5:c.1136G>A ENSP00000437674.1:p.Gly379Glu
ENST00000540617.5:c.1202G>A ENSP00000442672.1:p.Gly401Glu
XM_005245818.1:c.1367G>A XP_005245875.1:p.Gly456Glu
XM_006710546.1:c.1367G>A XP_006710609.1:p.Gly456Glu
XM_006710546.3:c.1367G>A XP_006710609.1:p.Gly456Glu
XM_017000903.1:c.1211G>A XP_016856392.1:p.Gly404Glu