Canonical Allele Identifier: CA666650

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1177589
• ClinVar RCV Id: RCV001533563 ; RCV001533564 ; RCV001533565 ; RCV001724348
• dbSNP Id: rs2275376
• ExAC: 1:21896918 G / A
• gnomAD v2: 1-21896918-G-A
• gnomAD v3: 1-21570425-G-A
• gnomAD v4: 1-21570425-G-A
• MyVariant Identifiers: chr1:g.21896918G>A (hg19) ; chr1:g.21570425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21570425G>A , CM000663.2:g.21570425G>A	GRCh38
NC_000001.10:g.21896918G>A , CM000663.1:g.21896918G>A	GRCh37
NC_000001.9:g.21769505G>A	NCBI36
NG_008940.1:g.66061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.862+51G>A MANE Select	ENSP00000363973.3:n.862+51G>A
ENST00000374830.2:c.72+51G>A
ENST00000374832.5:c.862+51G>A	ENSP00000363965.1:n.862+51G>A
ENST00000374840.7:c.862+51G>A	ENSP00000363973.3:n.862+51G>A
ENST00000539907.5:c.631+51G>A	ENSP00000437674.1:n.631+51G>A
ENST00000540617.5:c.697+51G>A	ENSP00000442672.1:n.697+51G>A
NM_000478.4:c.862+51G>A	NP_000469.3:n.862+51G>A
NM_001127501.2:c.697+51G>A	NP_001120973.2:n.697+51G>A
NM_001177520.1:c.631+51G>A	NP_001170991.1:n.631+51G>A
XM_005245818.1:c.862+51G>A	XP_005245875.1:n.862+51G>A
XM_005245820.2:c.862+51G>A	XP_005245877.1:n.862+51G>A
XM_006710546.1:c.862+51G>A	XP_006710609.1:n.862+51G>A
NM_000478.5:c.862+51G>A	NP_000469.3:n.862+51G>A
NM_001127501.3:c.697+51G>A	NP_001120973.2:n.697+51G>A
NM_001177520.2:c.631+51G>A	NP_001170991.1:n.631+51G>A
XM_006710546.3:c.862+51G>A	XP_006710609.1:n.862+51G>A
XM_017000903.1:c.706+51G>A	XP_016856392.1:n.706+51G>A
NM_000478.6:c.862+51G>A MANE Select	NP_000469.3:n.862+51G>A
NM_001127501.4:c.697+51G>A	NP_001120973.2:n.697+51G>A
NM_001177520.3:c.631+51G>A	NP_001170991.1:n.631+51G>A
NM_001369803.2:c.862+51G>A	NP_001356732.1:n.862+51G>A
NM_001369804.2:c.862+51G>A	NP_001356733.1:n.862+51G>A
NM_001369805.2:c.862+51G>A	NP_001356734.1:n.862+51G>A