Canonical Allele Identifier: CA2580061480

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2101782
• ClinVar RCV Id: RCV003037524

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21576634_21576638dup , CM000663.2:g.21576634_21576638dup	GRCh38
NC_000001.10:g.21903127_21903131dup , CM000663.1:g.21903127_21903131dup	GRCh37
NC_000001.9:g.21775714_21775718dup	NCBI36
NG_008940.1:g.72270_72274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1302_1306dup MANE Select	ENSP00000363973.3:p.Tyr436TrpfsTer?
ENST00000374829.2:n.571_575dup
ENST00000374830.2:c.377_381dup
ENST00000374832.5:c.1302_1306dup	ENSP00000363965.1:p.Tyr436TrpfsTer?
ENST00000374840.7:c.1302_1306dup	ENSP00000363973.3:p.Tyr436TrpfsTer?
ENST00000539907.5:c.1071_1075dup	ENSP00000437674.1:p.Tyr359TrpfsTer?
ENST00000540617.5:c.1137_1141dup	ENSP00000442672.1:p.Tyr381TrpfsTer?
NM_000478.4:c.1302_1306dup	NP_000469.3:p.Tyr436TrpfsTer?
NM_001127501.2:c.1137_1141dup	NP_001120973.2:p.Tyr381TrpfsTer?
NM_001177520.1:c.1071_1075dup	NP_001170991.1:p.Tyr359TrpfsTer?
XM_005245818.1:c.1302_1306dup	XP_005245875.1:p.Tyr436TrpfsTer?
XM_006710546.1:c.1302_1306dup	XP_006710609.1:p.Tyr436TrpfsTer?
NM_000478.5:c.1302_1306dup	NP_000469.3:p.Tyr436TrpfsTer?
NM_001127501.3:c.1137_1141dup	NP_001120973.2:p.Tyr381TrpfsTer?
NM_001177520.2:c.1071_1075dup	NP_001170991.1:p.Tyr359TrpfsTer?
XM_006710546.3:c.1302_1306dup	XP_006710609.1:p.Tyr436TrpfsTer?
XM_017000903.1:c.1146_1150dup	XP_016856392.1:p.Tyr384TrpfsTer?
NM_000478.6:c.1302_1306dup MANE Select	NP_000469.3:p.Tyr436TrpfsTer?
NM_001127501.4:c.1137_1141dup	NP_001120973.2:p.Tyr381TrpfsTer?
NM_001177520.3:c.1071_1075dup	NP_001170991.1:p.Tyr359TrpfsTer?
NM_001369803.2:c.1302_1306dup	NP_001356732.1:p.Tyr436TrpfsTer?
NM_001369804.2:c.1302_1306dup	NP_001356733.1:p.Tyr436TrpfsTer?
NM_001369805.2:c.1302_1306dup	NP_001356734.1:p.Tyr436TrpfsTer?