Canonical Allele Identifier: CA338881282

Gene: ALPL

Linked Data

• dbSNP Id: rs1236427530
• gnomAD v2: 1-21902342-C-G
• MyVariant Identifiers: chr1:g.21902342C>G (hg19) ; chr1:g.21575849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575849C>G , CM000663.2:g.21575849C>G	GRCh38
NC_000001.10:g.21902342C>G , CM000663.1:g.21902342C>G	GRCh37
NC_000001.9:g.21774929C>G	NCBI36
NG_008940.1:g.71485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1114C>G MANE Select	ENSP00000363973.3:p.Leu372Val
ENST00000374829.2:n.383C>G
ENST00000374830.2:c.189C>G
ENST00000374832.5:c.1114C>G	ENSP00000363965.1:p.Leu372Val
ENST00000374840.7:c.1114C>G	ENSP00000363973.3:p.Leu372Val
ENST00000539907.5:c.883C>G	ENSP00000437674.1:p.Leu295Val
ENST00000540617.5:c.949C>G	ENSP00000442672.1:p.Leu317Val
NM_000478.4:c.1114C>G	NP_000469.3:p.Leu372Val
NM_001127501.2:c.949C>G	NP_001120973.2:p.Leu317Val
NM_001177520.1:c.883C>G	NP_001170991.1:p.Leu295Val
XM_005245818.1:c.1114C>G	XP_005245875.1:p.Leu372Val
XM_006710546.1:c.1114C>G	XP_006710609.1:p.Leu372Val
NM_000478.5:c.1114C>G	NP_000469.3:p.Leu372Val
NM_001127501.3:c.949C>G	NP_001120973.2:p.Leu317Val
NM_001177520.2:c.883C>G	NP_001170991.1:p.Leu295Val
XM_006710546.3:c.1114C>G	XP_006710609.1:p.Leu372Val
XM_017000903.1:c.958C>G	XP_016856392.1:p.Leu320Val
NM_000478.6:c.1114C>G MANE Select	NP_000469.3:p.Leu372Val
NM_001127501.4:c.949C>G	NP_001120973.2:p.Leu317Val
NM_001177520.3:c.883C>G	NP_001170991.1:p.Leu295Val
NM_001369803.2:c.1114C>G	NP_001356732.1:p.Leu372Val
NM_001369804.2:c.1114C>G	NP_001356733.1:p.Leu372Val
NM_001369805.2:c.1114C>G	NP_001356734.1:p.Leu372Val