Canonical Allele Identifier: CA2586964023

Gene: ALPL

Linked Data

• ClinVar Variation Id: 3024104
• ClinVar RCV Id: RCV003881689

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21563224dup , CM000663.2:g.21563224dup	GRCh38
NC_000001.10:g.21889717dup , CM000663.1:g.21889717dup	GRCh37
NC_000001.9:g.21762304dup	NCBI36
NG_008940.1:g.58860dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.412dup MANE Select	ENSP00000363973.3:p.Arg138ProfsTer?
ENST00000374832.5:c.412dup	ENSP00000363965.1:p.Arg138ProfsTer?
ENST00000374840.7:c.412dup	ENSP00000363973.3:p.Arg138ProfsTer?
ENST00000468526.1:n.472dup
ENST00000539907.5:c.181dup	ENSP00000437674.1:p.Arg61ProfsTer?
ENST00000540617.5:c.247dup	ENSP00000442672.1:p.Arg83ProfsTer?
NM_000478.4:c.412dup	NP_000469.3:p.Arg138ProfsTer?
NM_001127501.2:c.247dup	NP_001120973.2:p.Arg83ProfsTer?
NM_001177520.1:c.181dup	NP_001170991.1:p.Arg61ProfsTer?
XM_005245818.1:c.412dup	XP_005245875.1:p.Arg138ProfsTer?
XM_005245820.2:c.412dup	XP_005245877.1:p.Arg138ProfsTer?
XM_006710546.1:c.412dup	XP_006710609.1:p.Arg138ProfsTer?
NM_000478.5:c.412dup	NP_000469.3:p.Arg138ProfsTer?
NM_001127501.3:c.247dup	NP_001120973.2:p.Arg83ProfsTer?
NM_001177520.2:c.181dup	NP_001170991.1:p.Arg61ProfsTer?
XM_006710546.3:c.412dup	XP_006710609.1:p.Arg138ProfsTer?
XM_017000903.1:c.256dup	XP_016856392.1:p.Arg86ProfsTer?
NM_000478.6:c.412dup MANE Select	NP_000469.3:p.Arg138ProfsTer?
NM_001127501.4:c.247dup	NP_001120973.2:p.Arg83ProfsTer?
NM_001177520.3:c.181dup	NP_001170991.1:p.Arg61ProfsTer?
NM_001369803.2:c.412dup	NP_001356732.1:p.Arg138ProfsTer?
NM_001369804.2:c.412dup	NP_001356733.1:p.Arg138ProfsTer?
NM_001369805.2:c.412dup	NP_001356734.1:p.Arg138ProfsTer?