Canonical Allele Identifier: CA277970

Gene: ALG1

Linked Data

• ClinVar Variation Id: 30536
• ClinVar RCV Id: RCV000023493
• dbSNP Id: rs387906925
• gnomAD v2: 16-5132616-A-G
• gnomAD v3: 16-5082615-A-G
• gnomAD v4: 16-5082615-A-G
• MyVariant Identifiers: chr16:g.5132616A>G (hg19) ; chr16:g.5082615A>G (hg38)
• PubMed: PMID:20679665

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082615A>G , CM000678.2:g.5082615A>G	GRCh38
NC_000016.9:g.5132616A>G , CM000678.1:g.5132616A>G	GRCh37
NC_000016.8:g.5072617A>G	NCBI36
NG_009202.1:g.15807A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3265A>G
ENST00000682020.1:c.535A>G	ENSP00000508075.1:p.Met179Val
ENST00000682206.1:c.*224A>G	ENSP00000508285.1:n.*224A>G
ENST00000682314.1:n.1177A>G
ENST00000682327.1:c.601A>G	ENSP00000507058.1:p.Met201Val
ENST00000682349.1:n.3271A>G
ENST00000682703.1:n.4097A>G
ENST00000682797.1:c.*221A>G	ENSP00000507582.1:n.*221A>G
ENST00000682985.1:c.640A>G	ENSP00000507598.1:p.Met214Val
ENST00000683433.1:c.388A>G	ENSP00000507463.1:p.Met130Val
ENST00000683685.1:n.2003A>G
ENST00000683710.1:c.*1096A>G	ENSP00000506785.1:n.*1096A>G
ENST00000683739.1:c.796A>G	ENSP00000507002.1:p.Met266Val
ENST00000683772.1:n.1173A>G
ENST00000684008.1:c.1067A>G	ENSP00000507962.1:n.1067A>G
ENST00000684190.1:c.1090A>G	ENSP00000507554.1:p.Met364Val
ENST00000684335.1:c.1018A>G	ENSP00000508112.1:p.Met340Val
ENST00000262374.10:c.1129A>G MANE Select	ENSP00000262374.5:p.Met377Val
ENST00000650085.1:n.1953A>G
ENST00000262374.9:c.1129A>G	ENSP00000262374.4:p.Met377Val
ENST00000544428.1:c.796A>G	ENSP00000440019.1:p.Met266Val
ENST00000588623.5:c.796A>G	ENSP00000468118.1:p.Met266Val
ENST00000591822.5:c.*1030A>G	ENSP00000467865.1:n.*1030A>G
NM_019109.4:c.1129A>G	NP_061982.3:p.Met377Val
XM_011522565.1:c.796A>G	XP_011520867.1:p.Met266Val
NM_001330504.1:c.796A>G	NP_001317433.1:p.Met266Val
XM_017023457.2:c.1090A>G	XP_016878946.1:p.Met364Val
XM_017023458.1:c.796A>G	XP_016878947.1:p.Met266Val
XR_932882.3:n.1158A>G
NM_019109.5:c.1129A>G MANE Select	NP_061982.3:p.Met377Val
NM_001330504.2:c.796A>G	NP_001317433.1:p.Met266Val