Canonical Allele Identifier: CA666514
Community Standard Title: NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21564052G>A , CM000663.2:g.21564052G>A GRCh38
NC_000001.10:g.21890545G>A , CM000663.1:g.21890545G>A GRCh37
NC_000001.9:g.21763132G>A NCBI36
NG_008940.1:g.59688G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.484G>A MANE Select NP_000469.3:p.Gly162Ser
ENST00000374840.8:c.484G>A MANE Select ENSP00000363973.3:p.Gly162Ser
NM_000478.4:c.484G>A NP_000469.3:p.Gly162Ser
NM_000478.5:c.484G>A NP_000469.3:p.Gly162Ser
NM_001127501.2:c.319G>A NP_001120973.2:p.Gly107Ser
NM_001127501.3:c.319G>A NP_001120973.2:p.Gly107Ser
NM_001127501.4:c.319G>A NP_001120973.2:p.Gly107Ser
NM_001177520.1:c.253G>A NP_001170991.1:p.Gly85Ser
NM_001177520.2:c.253G>A NP_001170991.1:p.Gly85Ser
NM_001177520.3:c.253G>A NP_001170991.1:p.Gly85Ser
NM_001369803.2:c.484G>A NP_001356732.1:p.Gly162Ser
NM_001369804.2:c.484G>A NP_001356733.1:p.Gly162Ser
NM_001369805.2:c.484G>A NP_001356734.1:p.Gly162Ser
ENST00000374832.5:c.484G>A ENSP00000363965.1:p.Gly162Ser
ENST00000374840.7:c.484G>A ENSP00000363973.3:p.Gly162Ser
ENST00000468526.1:n.544G>A
ENST00000539907.5:c.253G>A ENSP00000437674.1:p.Gly85Ser
ENST00000540617.5:c.319G>A ENSP00000442672.1:p.Gly107Ser
XM_005245818.1:c.484G>A XP_005245875.1:p.Gly162Ser
XM_005245820.2:c.484G>A XP_005245877.1:p.Gly162Ser
XM_006710546.1:c.484G>A XP_006710609.1:p.Gly162Ser
XM_006710546.3:c.484G>A XP_006710609.1:p.Gly162Ser
XM_017000903.1:c.328G>A XP_016856392.1:p.Gly110Ser