Canonical Allele Identifier: CA347284770

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572559-A-G
• MyVariant Identifiers: chr2:g.73799686A>G (hg19) ; chr2:g.73572559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572559A>G , CM000664.2:g.73572559A>G	GRCh38
NC_000002.11:g.73799686A>G , CM000664.1:g.73799686A>G	GRCh37
NC_000002.10:g.73653194A>G	NCBI36
NG_011690.1:g.191807A>G , LRG_741:g.191807A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10301A>G	ENSP00000507671.1:p.Asp3434Gly
ENST00000682801.1:c.10301A>G	ENSP00000507862.1:p.Asp3434Gly
ENST00000682859.1:c.10301A>G	ENSP00000508222.1:p.Asp3434Gly
ENST00000683791.1:c.3387A>G
ENST00000684460.1:c.7582A>G
ENST00000684548.1:c.10301A>G	ENSP00000507421.1:p.Asp3434Gly
ENST00000684590.1:c.4748A>G	ENSP00000507376.1:p.Asp1583Gly
ENST00000684656.1:c.7627A>G
ENST00000613296.6:c.10682A>G MANE Select	ENSP00000482968.1:p.Asp3561Gly
ENST00000651057.1:c.836A>G	ENSP00000498504.1:p.Asp279Gly
ENST00000651434.1:c.2038A>G
ENST00000651750.1:c.70A>G
ENST00000652487.1:c.1779A>G
ENST00000423048.5:c.4173A>G	ENSP00000399833.1:n.4173A>G
ENST00000484298.5:c.10556A>G	ENSP00000478155.1:p.Asp3519Gly
ENST00000613296.4:c.10682A>G	ENSP00000482968.1:p.Asp3561Gly
ENST00000614410.4:c.10682A>G	ENSP00000479094.1:p.Asp3561Gly
ENST00000620466.4:n.4485A>G
NM_015120.4:c.10685A>G , LRG_741t1:c.10685A>G	NP_055935.4:p.Asp3562Gly
NM_001378454.1:c.10682A>G MANE Select	NP_001365383.1:p.Asp3561Gly