Canonical Allele Identifier: CA338881075

Gene: ALPL

Linked Data

• ClinVar Variation Id: 555880
• ClinVar RCV Id: RCV000671791 ; RCV001378583 ; RCV002265850 ; RCV003465511 ; RCV003938022
• dbSNP Id: rs1553414563
• MyVariant Identifiers: chr1:g.21902270G>A (hg19) ; chr1:g.21575777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575777G>A , CM000663.2:g.21575777G>A	GRCh38
NC_000001.10:g.21902270G>A , CM000663.1:g.21902270G>A	GRCh37
NC_000001.9:g.21774857G>A	NCBI36
NG_008940.1:g.71413G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.1042G>A MANE Select	ENSP00000363973.3:p.Ala348Thr
ENST00000374829.2:n.311G>A
ENST00000374830.2:c.117G>A
ENST00000374832.5:c.1042G>A	ENSP00000363965.1:p.Ala348Thr
ENST00000374840.7:c.1042G>A	ENSP00000363973.3:p.Ala348Thr
ENST00000539907.5:c.811G>A	ENSP00000437674.1:p.Ala271Thr
ENST00000540617.5:c.877G>A	ENSP00000442672.1:p.Ala293Thr
NM_000478.4:c.1042G>A	NP_000469.3:p.Ala348Thr
NM_001127501.2:c.877G>A	NP_001120973.2:p.Ala293Thr
NM_001177520.1:c.811G>A	NP_001170991.1:p.Ala271Thr
XM_005245818.1:c.1042G>A	XP_005245875.1:p.Ala348Thr
XM_006710546.1:c.1042G>A	XP_006710609.1:p.Ala348Thr
NM_000478.5:c.1042G>A	NP_000469.3:p.Ala348Thr
NM_001127501.3:c.877G>A	NP_001120973.2:p.Ala293Thr
NM_001177520.2:c.811G>A	NP_001170991.1:p.Ala271Thr
XM_006710546.3:c.1042G>A	XP_006710609.1:p.Ala348Thr
XM_017000903.1:c.886G>A	XP_016856392.1:p.Ala296Thr
NM_000478.6:c.1042G>A MANE Select	NP_000469.3:p.Ala348Thr
NM_001127501.4:c.877G>A	NP_001120973.2:p.Ala293Thr
NM_001177520.3:c.811G>A	NP_001170991.1:p.Ala271Thr
NM_001369803.2:c.1042G>A	NP_001356732.1:p.Ala348Thr
NM_001369804.2:c.1042G>A	NP_001356733.1:p.Ala348Thr
NM_001369805.2:c.1042G>A	NP_001356734.1:p.Ala348Thr