Canonical Allele Identifier: CA16603569

Gene: ALPL

Linked Data

• ClinVar Variation Id: 392980
• ClinVar RCV Id: RCV000733233 ; RCV003482143
• dbSNP Id: rs1057524727
• gnomAD v4: 1-21575739-G-C
• MyVariant Identifiers: chr1:g.21902232G>C (hg19) ; chr1:g.21575739G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575739G>C , CM000663.2:g.21575739G>C	GRCh38
NC_000001.10:g.21902232G>C , CM000663.1:g.21902232G>C	GRCh37
NC_000001.9:g.21774819G>C	NCBI36
NG_008940.1:g.71375G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1004G>C MANE Select	ENSP00000363973.3:p.Arg335Thr
ENST00000374829.2:n.273G>C
ENST00000374830.2:c.79G>C
ENST00000374832.5:c.1004G>C	ENSP00000363965.1:p.Arg335Thr
ENST00000374840.7:c.1004G>C	ENSP00000363973.3:p.Arg335Thr
ENST00000539907.5:c.773G>C	ENSP00000437674.1:p.Arg258Thr
ENST00000540617.5:c.839G>C	ENSP00000442672.1:p.Arg280Thr
NM_000478.4:c.1004G>C	NP_000469.3:p.Arg335Thr
NM_001127501.2:c.839G>C	NP_001120973.2:p.Arg280Thr
NM_001177520.1:c.773G>C	NP_001170991.1:p.Arg258Thr
XM_005245818.1:c.1004G>C	XP_005245875.1:p.Arg335Thr
XM_006710546.1:c.1004G>C	XP_006710609.1:p.Arg335Thr
NM_000478.5:c.1004G>C	NP_000469.3:p.Arg335Thr
NM_001127501.3:c.839G>C	NP_001120973.2:p.Arg280Thr
NM_001177520.2:c.773G>C	NP_001170991.1:p.Arg258Thr
XM_006710546.3:c.1004G>C	XP_006710609.1:p.Arg335Thr
XM_017000903.1:c.848G>C	XP_016856392.1:p.Arg283Thr
NM_000478.6:c.1004G>C MANE Select	NP_000469.3:p.Arg335Thr
NM_001127501.4:c.839G>C	NP_001120973.2:p.Arg280Thr
NM_001177520.3:c.773G>C	NP_001170991.1:p.Arg258Thr
NM_001369803.2:c.1004G>C	NP_001356732.1:p.Arg335Thr
NM_001369804.2:c.1004G>C	NP_001356733.1:p.Arg335Thr
NM_001369805.2:c.1004G>C	NP_001356734.1:p.Arg335Thr