Canonical Allele Identifier: CA416525813

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1555060
• ClinVar RCV Id: RCV002199794
• dbSNP Id: rs764097939
• gnomAD v4: 1-21563196-G-T
• MyVariant Identifiers: chr1:g.21889689G>T (hg19) ; chr1:g.21563196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21563196G>T , CM000663.2:g.21563196G>T	GRCh38
NC_000001.10:g.21889689G>T , CM000663.1:g.21889689G>T	GRCh37
NC_000001.9:g.21762276G>T	NCBI36
NG_008940.1:g.58832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.384G>T MANE Select	ENSP00000363973.3:p.Val128=
ENST00000374832.5:c.384G>T	ENSP00000363965.1:p.Val128=
ENST00000374840.7:c.384G>T	ENSP00000363973.3:p.Val128=
ENST00000468526.1:n.444G>T
ENST00000539907.5:c.153G>T	ENSP00000437674.1:p.Val51=
ENST00000540617.5:c.219G>T	ENSP00000442672.1:p.Val73=
NM_000478.4:c.384G>T	NP_000469.3:p.Val128=
NM_001127501.2:c.219G>T	NP_001120973.2:p.Val73=
NM_001177520.1:c.153G>T	NP_001170991.1:p.Val51=
XM_005245818.1:c.384G>T	XP_005245875.1:p.Val128=
XM_005245820.2:c.384G>T	XP_005245877.1:p.Val128=
XM_006710546.1:c.384G>T	XP_006710609.1:p.Val128=
NM_000478.5:c.384G>T	NP_000469.3:p.Val128=
NM_001127501.3:c.219G>T	NP_001120973.2:p.Val73=
NM_001177520.2:c.153G>T	NP_001170991.1:p.Val51=
XM_006710546.3:c.384G>T	XP_006710609.1:p.Val128=
XM_017000903.1:c.228G>T	XP_016856392.1:p.Val76=
NM_000478.6:c.384G>T MANE Select	NP_000469.3:p.Val128=
NM_001127501.4:c.219G>T	NP_001120973.2:p.Val73=
NM_001177520.3:c.153G>T	NP_001170991.1:p.Val51=
NM_001369803.2:c.384G>T	NP_001356732.1:p.Val128=
NM_001369804.2:c.384G>T	NP_001356733.1:p.Val128=
NM_001369805.2:c.384G>T	NP_001356734.1:p.Val128=