Canonical Allele Identifier: CA347284790

Gene: ALMS1

Linked Data

• dbSNP Id: rs1447618947
• gnomAD v2: 2-73799688-A-G
• gnomAD v4: 2-73572561-A-G
• MyVariant Identifiers: chr2:g.73799688A>G (hg19) ; chr2:g.73572561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572561A>G , CM000664.2:g.73572561A>G	GRCh38
NC_000002.11:g.73799688A>G , CM000664.1:g.73799688A>G	GRCh37
NC_000002.10:g.73653196A>G	NCBI36
NG_011690.1:g.191809A>G , LRG_741:g.191809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10303A>G	ENSP00000507671.1:p.Thr3435Ala
ENST00000682801.1:c.10303A>G	ENSP00000507862.1:p.Thr3435Ala
ENST00000682859.1:c.10303A>G	ENSP00000508222.1:p.Thr3435Ala
ENST00000683791.1:c.3389A>G
ENST00000684460.1:c.7584A>G
ENST00000684548.1:c.10303A>G	ENSP00000507421.1:p.Thr3435Ala
ENST00000684590.1:c.4750A>G	ENSP00000507376.1:p.Thr1584Ala
ENST00000684656.1:c.7629A>G
ENST00000613296.6:c.10684A>G MANE Select	ENSP00000482968.1:p.Thr3562Ala
ENST00000651057.1:c.838A>G	ENSP00000498504.1:p.Thr280Ala
ENST00000651434.1:c.2040A>G
ENST00000651750.1:c.72A>G
ENST00000652487.1:c.1781A>G
ENST00000423048.5:c.4175A>G	ENSP00000399833.1:n.4175A>G
ENST00000484298.5:c.10558A>G	ENSP00000478155.1:p.Thr3520Ala
ENST00000613296.4:c.10684A>G	ENSP00000482968.1:p.Thr3562Ala
ENST00000614410.4:c.10684A>G	ENSP00000479094.1:p.Thr3562Ala
ENST00000620466.4:n.4487A>G
NM_015120.4:c.10687A>G , LRG_741t1:c.10687A>G	NP_055935.4:p.Thr3563Ala
NM_001378454.1:c.10684A>G MANE Select	NP_001365383.1:p.Thr3562Ala