Canonical Allele Identifier: CA10614378

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 337026
• ClinVar RCV Id: RCV000275102 ; RCV003910303
• dbSNP Id: rs886056313
• gnomAD v4: 2-73490775-A-G
• MyVariant Identifiers: chr2:g.73717902A>G (hg19) ; chr2:g.73490775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490775A>G , CM000664.2:g.73490775A>G	GRCh38
NC_000002.11:g.73717902A>G , CM000664.1:g.73717902A>G	GRCh37
NC_000002.10:g.73571410A>G	NCBI36
NG_011690.1:g.110023A>G , LRG_741:g.110023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.8435A>G	ENSP00000507671.1:p.Asp2812Gly
ENST00000682801.1:c.8435A>G	ENSP00000507862.1:p.Asp2812Gly
ENST00000682859.1:c.8435A>G	ENSP00000508222.1:p.Asp2812Gly
ENST00000683791.1:c.1827A>G
ENST00000684460.1:c.5887A>G
ENST00000684548.1:c.8435A>G	ENSP00000507421.1:p.Asp2812Gly
ENST00000684590.1:c.2882A>G	ENSP00000507376.1:p.Asp961Gly
ENST00000684656.1:c.5887A>G
ENST00000613296.6:c.8816A>G MANE Select	ENSP00000482968.1:p.Asp2939Gly
ENST00000651434.1:c.896-29000A>G
ENST00000423048.5:c.3030+617A>G	ENSP00000399833.1:n.3030+617A>G
ENST00000484298.5:c.8690A>G	ENSP00000478155.1:p.Asp2897Gly
ENST00000613296.4:c.8816A>G	ENSP00000482968.1:p.Asp2939Gly
ENST00000614410.4:c.8816A>G	ENSP00000479094.1:p.Asp2939Gly
ENST00000620466.4:n.2619A>G
NM_015120.4:c.8819A>G , LRG_741t1:c.8819A>G	NP_055935.4:p.Asp2940Gly
NM_001378454.1:c.8816A>G MANE Select	NP_001365383.1:p.Asp2939Gly