Canonical Allele Identifier: CA245947

Gene: ALPL

Linked Data

• ClinVar Variation Id: 197677
• ClinVar RCV Id: RCV000178777 ; RCV001096294 ; RCV002515269 ; RCV001553716
• dbSNP Id: rs138587317
• ExAC: 1:21889741 G / A
• gnomAD v2: 1-21889741-G-A
• gnomAD v3: 1-21563248-G-A
• gnomAD v4: 1-21563248-G-A
• MyVariant Identifiers: chr1:g.21889741G>A (hg19) ; chr1:g.21563248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21563248G>A , CM000663.2:g.21563248G>A	GRCh38
NC_000001.10:g.21889741G>A , CM000663.1:g.21889741G>A	GRCh37
NC_000001.9:g.21762328G>A	NCBI36
NG_008940.1:g.58884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.436G>A MANE Select	ENSP00000363973.3:p.Glu146Lys
ENST00000374832.5:c.436G>A	ENSP00000363965.1:p.Glu146Lys
ENST00000374840.7:c.436G>A	ENSP00000363973.3:p.Glu146Lys
ENST00000468526.1:n.496G>A
ENST00000539907.5:c.205G>A	ENSP00000437674.1:p.Glu69Lys
ENST00000540617.5:c.271G>A	ENSP00000442672.1:p.Glu91Lys
NM_000478.4:c.436G>A	NP_000469.3:p.Glu146Lys
NM_001127501.2:c.271G>A	NP_001120973.2:p.Glu91Lys
NM_001177520.1:c.205G>A	NP_001170991.1:p.Glu69Lys
XM_005245818.1:c.436G>A	XP_005245875.1:p.Glu146Lys
XM_005245820.2:c.436G>A	XP_005245877.1:p.Glu146Lys
XM_006710546.1:c.436G>A	XP_006710609.1:p.Glu146Lys
NM_000478.5:c.436G>A	NP_000469.3:p.Glu146Lys
NM_001127501.3:c.271G>A	NP_001120973.2:p.Glu91Lys
NM_001177520.2:c.205G>A	NP_001170991.1:p.Glu69Lys
XM_006710546.3:c.436G>A	XP_006710609.1:p.Glu146Lys
XM_017000903.1:c.280G>A	XP_016856392.1:p.Glu94Lys
NM_000478.6:c.436G>A MANE Select	NP_000469.3:p.Glu146Lys
NM_001127501.4:c.271G>A	NP_001120973.2:p.Glu91Lys
NM_001177520.3:c.205G>A	NP_001170991.1:p.Glu69Lys
NM_001369803.2:c.436G>A	NP_001356732.1:p.Glu146Lys
NM_001369804.2:c.436G>A	NP_001356733.1:p.Glu146Lys
NM_001369805.2:c.436G>A	NP_001356734.1:p.Glu146Lys