Canonical Allele Identifier: CA338879949

Gene: ALPL

Linked Data

• gnomAD v4: 1-21570344-C-G
• MyVariant Identifiers: chr1:g.21896837C>G (hg19) ; chr1:g.21570344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21570344C>G , CM000663.2:g.21570344C>G	GRCh38
NC_000001.10:g.21896837C>G , CM000663.1:g.21896837C>G	GRCh37
NC_000001.9:g.21769424C>G	NCBI36
NG_008940.1:g.65980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.832C>G MANE Select	ENSP00000363973.3:p.Leu278Val
ENST00000374830.2:c.42C>G
ENST00000374832.5:c.832C>G	ENSP00000363965.1:p.Leu278Val
ENST00000374840.7:c.832C>G	ENSP00000363973.3:p.Leu278Val
ENST00000539907.5:c.601C>G	ENSP00000437674.1:p.Leu201Val
ENST00000540617.5:c.667C>G	ENSP00000442672.1:p.Leu223Val
NM_000478.4:c.832C>G	NP_000469.3:p.Leu278Val
NM_001127501.2:c.667C>G	NP_001120973.2:p.Leu223Val
NM_001177520.1:c.601C>G	NP_001170991.1:p.Leu201Val
XM_005245818.1:c.832C>G	XP_005245875.1:p.Leu278Val
XM_005245820.2:c.832C>G	XP_005245877.1:p.Leu278Val
XM_006710546.1:c.832C>G	XP_006710609.1:p.Leu278Val
NM_000478.5:c.832C>G	NP_000469.3:p.Leu278Val
NM_001127501.3:c.667C>G	NP_001120973.2:p.Leu223Val
NM_001177520.2:c.601C>G	NP_001170991.1:p.Leu201Val
XM_006710546.3:c.832C>G	XP_006710609.1:p.Leu278Val
XM_017000903.1:c.676C>G	XP_016856392.1:p.Leu226Val
NM_000478.6:c.832C>G MANE Select	NP_000469.3:p.Leu278Val
NM_001127501.4:c.667C>G	NP_001120973.2:p.Leu223Val
NM_001177520.3:c.601C>G	NP_001170991.1:p.Leu201Val
NM_001369803.2:c.832C>G	NP_001356732.1:p.Leu278Val
NM_001369804.2:c.832C>G	NP_001356733.1:p.Leu278Val
NM_001369805.2:c.832C>G	NP_001356734.1:p.Leu278Val