Canonical Allele Identifier: CA338880993

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1455036
• ClinVar RCV Id: RCV001942171 ; RCV003447611
• dbSNP Id: rs2148189619
• gnomAD v4: 1-21575750-G-A
• MyVariant Identifiers: chr1:g.21902243G>A (hg19) ; chr1:g.21575750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575750G>A , CM000663.2:g.21575750G>A	GRCh38
NC_000001.10:g.21902243G>A , CM000663.1:g.21902243G>A	GRCh37
NC_000001.9:g.21774830G>A	NCBI36
NG_008940.1:g.71386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1015G>A MANE Select	ENSP00000363973.3:p.Gly339Arg
ENST00000374829.2:n.284G>A
ENST00000374830.2:c.90G>A
ENST00000374832.5:c.1015G>A	ENSP00000363965.1:p.Gly339Arg
ENST00000374840.7:c.1015G>A	ENSP00000363973.3:p.Gly339Arg
ENST00000539907.5:c.784G>A	ENSP00000437674.1:p.Gly262Arg
ENST00000540617.5:c.850G>A	ENSP00000442672.1:p.Gly284Arg
NM_000478.4:c.1015G>A	NP_000469.3:p.Gly339Arg
NM_001127501.2:c.850G>A	NP_001120973.2:p.Gly284Arg
NM_001177520.1:c.784G>A	NP_001170991.1:p.Gly262Arg
XM_005245818.1:c.1015G>A	XP_005245875.1:p.Gly339Arg
XM_006710546.1:c.1015G>A	XP_006710609.1:p.Gly339Arg
NM_000478.5:c.1015G>A	NP_000469.3:p.Gly339Arg
NM_001127501.3:c.850G>A	NP_001120973.2:p.Gly284Arg
NM_001177520.2:c.784G>A	NP_001170991.1:p.Gly262Arg
XM_006710546.3:c.1015G>A	XP_006710609.1:p.Gly339Arg
XM_017000903.1:c.859G>A	XP_016856392.1:p.Gly287Arg
NM_000478.6:c.1015G>A MANE Select	NP_000469.3:p.Gly339Arg
NM_001127501.4:c.850G>A	NP_001120973.2:p.Gly284Arg
NM_001177520.3:c.784G>A	NP_001170991.1:p.Gly262Arg
NM_001369803.2:c.1015G>A	NP_001356732.1:p.Gly339Arg
NM_001369804.2:c.1015G>A	NP_001356733.1:p.Gly339Arg
NM_001369805.2:c.1015G>A	NP_001356734.1:p.Gly339Arg