Canonical Allele Identifier: CA212949

Gene: ALPL

Linked Data

• ClinVar Variation Id: 13678
• ClinVar RCV Id: RCV000014671 ; RCV000710058 ; RCV001227927 ; RCV001553715 ; RCV004549368 ; RCV003466858
• dbSNP Id: rs749544042
• ExAC: 1:21890710 G / A
• gnomAD v2: 1-21890710-G-A
• gnomAD v3: 1-21564217-G-A
• gnomAD v4: 1-21564217-G-A
• MyVariant Identifiers: chr1:g.21890710G>A (hg19) ; chr1:g.21564217G>A (hg38)
• PubMed: PMID:11745997

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21564217G>A , CM000663.2:g.21564217G>A	GRCh38
NC_000001.10:g.21890710G>A , CM000663.1:g.21890710G>A	GRCh37
NC_000001.9:g.21763297G>A	NCBI36
NG_008940.1:g.59853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.648+1G>A MANE Select	ENSP00000363973.3:n.648+1G>A
ENST00000374832.5:c.648+1G>A	ENSP00000363965.1:n.648+1G>A
ENST00000374840.7:c.648+1G>A	ENSP00000363973.3:n.648+1G>A
ENST00000539907.5:c.417+1G>A	ENSP00000437674.1:n.417+1G>A
ENST00000540617.5:c.483+1G>A	ENSP00000442672.1:n.483+1G>A
NM_000478.4:c.648+1G>A	NP_000469.3:n.648+1G>A
NM_001127501.2:c.483+1G>A	NP_001120973.2:n.483+1G>A
NM_001177520.1:c.417+1G>A	NP_001170991.1:n.417+1G>A
XM_005245818.1:c.648+1G>A	XP_005245875.1:n.648+1G>A
XM_005245820.2:c.648+1G>A	XP_005245877.1:n.648+1G>A
XM_006710546.1:c.648+1G>A	XP_006710609.1:n.648+1G>A
NM_000478.5:c.648+1G>A	NP_000469.3:n.648+1G>A
NM_001127501.3:c.483+1G>A	NP_001120973.2:n.483+1G>A
NM_001177520.2:c.417+1G>A	NP_001170991.1:n.417+1G>A
XM_006710546.3:c.648+1G>A	XP_006710609.1:n.648+1G>A
XM_017000903.1:c.492+1G>A	XP_016856392.1:n.492+1G>A
NM_000478.6:c.648+1G>A MANE Select	NP_000469.3:n.648+1G>A
NM_001127501.4:c.483+1G>A	NP_001120973.2:n.483+1G>A
NM_001177520.3:c.417+1G>A	NP_001170991.1:n.417+1G>A
NM_001369803.2:c.648+1G>A	NP_001356732.1:n.648+1G>A
NM_001369804.2:c.648+1G>A	NP_001356733.1:n.648+1G>A
NM_001369805.2:c.648+1G>A	NP_001356734.1:n.648+1G>A