Canonical Allele Identifier: CA666452

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1204175
• ClinVar RCV Id: RCV001570448
• dbSNP Id: rs112855382
• ExAC: 1:21889561 C / A
• gnomAD v2: 1-21889561-C-A
• gnomAD v3: 1-21563068-C-A
• gnomAD v4: 1-21563068-C-A
• MyVariant Identifiers: chr1:g.21889561C>A (hg19) ; chr1:g.21563068C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21563068C>A , CM000663.2:g.21563068C>A	GRCh38
NC_000001.10:g.21889561C>A , CM000663.1:g.21889561C>A	GRCh37
NC_000001.9:g.21762148C>A	NCBI36
NG_008940.1:g.58704C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.298-42C>A MANE Select	ENSP00000363973.3:n.298-42C>A
ENST00000374832.5:c.298-42C>A	ENSP00000363965.1:n.298-42C>A
ENST00000374840.7:c.298-42C>A	ENSP00000363973.3:n.298-42C>A
ENST00000468526.1:n.358-42C>A
ENST00000539907.5:c.67-42C>A	ENSP00000437674.1:n.67-42C>A
ENST00000540617.5:c.133-42C>A	ENSP00000442672.1:n.133-42C>A
NM_000478.4:c.298-42C>A	NP_000469.3:n.298-42C>A
NM_001127501.2:c.133-42C>A	NP_001120973.2:n.133-42C>A
NM_001177520.1:c.67-42C>A	NP_001170991.1:n.67-42C>A
XM_005245818.1:c.298-42C>A	XP_005245875.1:n.298-42C>A
XM_005245820.2:c.298-42C>A	XP_005245877.1:n.298-42C>A
XM_006710546.1:c.298-42C>A	XP_006710609.1:n.298-42C>A
NM_000478.5:c.298-42C>A	NP_000469.3:n.298-42C>A
NM_001127501.3:c.133-42C>A	NP_001120973.2:n.133-42C>A
NM_001177520.2:c.67-42C>A	NP_001170991.1:n.67-42C>A
XM_006710546.3:c.298-42C>A	XP_006710609.1:n.298-42C>A
XM_017000903.1:c.142-42C>A	XP_016856392.1:n.142-42C>A
NM_000478.6:c.298-42C>A MANE Select	NP_000469.3:n.298-42C>A
NM_001127501.4:c.133-42C>A	NP_001120973.2:n.133-42C>A
NM_001177520.3:c.67-42C>A	NP_001170991.1:n.67-42C>A
NM_001369803.2:c.298-42C>A	NP_001356732.1:n.298-42C>A
NM_001369804.2:c.298-42C>A	NP_001356733.1:n.298-42C>A
NM_001369805.2:c.298-42C>A	NP_001356734.1:n.298-42C>A