Canonical Allele Identifier: CA731317674

Gene: ALPL

Linked Data

• dbSNP Id: rs1225131300
• MyVariant Identifiers: chr1:g.21903104_21903105insA (hg19) ; chr1:g.21576611_21576612insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21576613dup , CM000663.2:g.21576613dup	GRCh38
NC_000001.10:g.21903106dup , CM000663.1:g.21903106dup	GRCh37
NC_000001.9:g.21775693dup	NCBI36
NG_008940.1:g.72249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1281dup MANE Select	ENSP00000363973.3:p.Arg428ThrfsTer?
ENST00000374829.2:n.550dup
ENST00000374830.2:c.356dup
ENST00000374832.5:c.1281dup	ENSP00000363965.1:p.Arg428ThrfsTer?
ENST00000374840.7:c.1281dup	ENSP00000363973.3:p.Arg428ThrfsTer?
ENST00000539907.5:c.1050dup	ENSP00000437674.1:p.Arg351ThrfsTer?
ENST00000540617.5:c.1116dup	ENSP00000442672.1:p.Arg373ThrfsTer?
NM_000478.4:c.1281dup	NP_000469.3:p.Arg428ThrfsTer?
NM_001127501.2:c.1116dup	NP_001120973.2:p.Arg373ThrfsTer?
NM_001177520.1:c.1050dup	NP_001170991.1:p.Arg351ThrfsTer?
XM_005245818.1:c.1281dup	XP_005245875.1:p.Arg428ThrfsTer?
XM_006710546.1:c.1281dup	XP_006710609.1:p.Arg428ThrfsTer?
NM_000478.5:c.1281dup	NP_000469.3:p.Arg428ThrfsTer?
NM_001127501.3:c.1116dup	NP_001120973.2:p.Arg373ThrfsTer?
NM_001177520.2:c.1050dup	NP_001170991.1:p.Arg351ThrfsTer?
XM_006710546.3:c.1281dup	XP_006710609.1:p.Arg428ThrfsTer?
XM_017000903.1:c.1125dup	XP_016856392.1:p.Arg376ThrfsTer?
NM_000478.6:c.1281dup MANE Select	NP_000469.3:p.Arg428ThrfsTer?
NM_001127501.4:c.1116dup	NP_001120973.2:p.Arg373ThrfsTer?
NM_001177520.3:c.1050dup	NP_001170991.1:p.Arg351ThrfsTer?
NM_001369803.2:c.1281dup	NP_001356732.1:p.Arg428ThrfsTer?
NM_001369804.2:c.1281dup	NP_001356733.1:p.Arg428ThrfsTer?
NM_001369805.2:c.1281dup	NP_001356734.1:p.Arg428ThrfsTer?