Canonical Allele Identifier: CA347267728

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2140979
• ClinVar RCV Id: RCV003073834
• dbSNP Id: rs1672945284
• gnomAD v3: 2-73490126-T-A
• gnomAD v4: 2-73490126-T-A
• MyVariant Identifiers: chr2:g.73717253T>A (hg19) ; chr2:g.73490126T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490126T>A , CM000664.2:g.73490126T>A	GRCh38
NC_000002.11:g.73717253T>A , CM000664.1:g.73717253T>A	GRCh37
NC_000002.10:g.73570761T>A	NCBI36
NG_011690.1:g.109374T>A , LRG_741:g.109374T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7786T>A	ENSP00000507671.1:p.Ser2596Thr
ENST00000682801.1:c.7786T>A	ENSP00000507862.1:p.Ser2596Thr
ENST00000682859.1:c.7786T>A	ENSP00000508222.1:p.Ser2596Thr
ENST00000683791.1:c.1178T>A
ENST00000684460.1:c.5238T>A
ENST00000684548.1:c.7786T>A	ENSP00000507421.1:p.Ser2596Thr
ENST00000684590.1:c.2233T>A	ENSP00000507376.1:p.Ser745Thr
ENST00000684656.1:c.5238T>A
ENST00000613296.6:c.8167T>A MANE Select	ENSP00000482968.1:p.Ser2723Thr
ENST00000651434.1:c.896-29649T>A
ENST00000423048.5:c.2998T>A	ENSP00000399833.1:p.Ser1000Thr
ENST00000484298.5:c.8041T>A	ENSP00000478155.1:p.Ser2681Thr
ENST00000613296.4:c.8167T>A	ENSP00000482968.1:p.Ser2723Thr
ENST00000614410.4:c.8167T>A	ENSP00000479094.1:p.Ser2723Thr
ENST00000620466.4:n.1970T>A
NM_015120.4:c.8170T>A , LRG_741t1:c.8170T>A	NP_055935.4:p.Ser2724Thr
NM_001378454.1:c.8167T>A MANE Select	NP_001365383.1:p.Ser2723Thr