Canonical Allele Identifier: CA1713272

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 240985
• ClinVar RCV Id: RCV000234517 ; RCV001723822 ; RCV002418023
• dbSNP Id: rs201804994
• ExAC: 2:73675719 A / G
• gnomAD v2: 2-73675719-A-G
• gnomAD v3: 2-73448592-A-G
• gnomAD v4: 2-73448592-A-G
• MyVariant Identifiers: chr2:g.73675719A>G (hg19) ; chr2:g.73448592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448592A>G , CM000664.2:g.73448592A>G	GRCh38
NC_000002.11:g.73675719A>G , CM000664.1:g.73675719A>G	GRCh37
NC_000002.10:g.73529227A>G	NCBI36
NG_011690.1:g.67840A>G , LRG_741:g.67840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.1684A>G	ENSP00000507671.1:p.Thr562Ala
ENST00000682801.1:c.1684A>G	ENSP00000507862.1:p.Thr562Ala
ENST00000682859.1:c.1684A>G	ENSP00000508222.1:p.Thr562Ala
ENST00000683791.1:c.685+16301A>G
ENST00000684548.1:c.1684A>G	ENSP00000507421.1:p.Thr562Ala
ENST00000613296.6:c.2065A>G MANE Select	ENSP00000482968.1:p.Thr689Ala
ENST00000484298.5:c.1939A>G	ENSP00000478155.1:p.Thr647Ala
ENST00000613296.4:c.2065A>G	ENSP00000482968.1:p.Thr689Ala
ENST00000614410.4:c.2065A>G	ENSP00000479094.1:p.Thr689Ala
NM_015120.4:c.2068A>G , LRG_741t1:c.2068A>G	NP_055935.4:p.Thr690Ala
NM_001378454.1:c.2065A>G MANE Select	NP_001365383.1:p.Thr689Ala