Canonical Allele Identifier: CA658820984

Gene: ALPL

Linked Data

• ClinVar Variation Id: 558600
• ClinVar RCV Id: RCV000674897 ; RCV002531364
• dbSNP Id: rs1553411920
• MyVariant Identifiers: chr1:g.21561140_21561143dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561140_21561143dup , CM000663.2:g.21561140_21561143dup	GRCh38
NC_000001.10:g.21887633_21887636dup , CM000663.1:g.21887633_21887636dup	GRCh37
NC_000001.9:g.21760220_21760223dup	NCBI36
NG_008940.1:g.56776_56779dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.225_228dup MANE Select	ENSP00000363973.3:p.Leu77SerfsTer?
ENST00000374832.5:c.225_228dup	ENSP00000363965.1:p.Leu77SerfsTer?
ENST00000374840.7:c.225_228dup	ENSP00000363973.3:p.Leu77SerfsTer?
ENST00000468526.1:n.285_288dup
ENST00000539907.5:c.66+395_66+398dup	ENSP00000437674.1:n.66+395_66+398dup
ENST00000540617.5:c.60_63dup	ENSP00000442672.1:p.Leu22SerfsTer?
NM_000478.4:c.225_228dup	NP_000469.3:p.Leu77SerfsTer?
NM_001127501.2:c.60_63dup	NP_001120973.2:p.Leu22SerfsTer?
NM_001177520.1:c.66+395_66+398dup	NP_001170991.1:n.66+395_66+398dup
XM_005245818.1:c.225_228dup	XP_005245875.1:p.Leu77SerfsTer?
XM_005245820.2:c.225_228dup	XP_005245877.1:p.Leu77SerfsTer?
XM_006710546.1:c.225_228dup	XP_006710609.1:p.Leu77SerfsTer?
NM_000478.5:c.225_228dup	NP_000469.3:p.Leu77SerfsTer?
NM_001127501.3:c.60_63dup	NP_001120973.2:p.Leu22SerfsTer?
NM_001177520.2:c.66+395_66+398dup	NP_001170991.1:n.66+395_66+398dup
XM_006710546.3:c.225_228dup	XP_006710609.1:p.Leu77SerfsTer?
XM_017000903.1:c.69_72dup	XP_016856392.1:p.Leu25SerfsTer?
NM_000478.6:c.225_228dup MANE Select	NP_000469.3:p.Leu77SerfsTer?
NM_001127501.4:c.60_63dup	NP_001120973.2:p.Leu22SerfsTer?
NM_001177520.3:c.66+395_66+398dup	NP_001170991.1:n.66+395_66+398dup
NM_001369803.2:c.225_228dup	NP_001356732.1:p.Leu77SerfsTer?
NM_001369804.2:c.225_228dup	NP_001356733.1:p.Leu77SerfsTer?
NM_001369805.2:c.225_228dup	NP_001356734.1:p.Leu77SerfsTer?