Canonical Allele Identifier: CA347284804

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1024716
• ClinVar RCV Id: RCV001324930
• dbSNP Id: rs1674959661
• MyVariant Identifiers: chr2:g.73799689C>G (hg19) ; chr2:g.73572562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572562C>G , CM000664.2:g.73572562C>G	GRCh38
NC_000002.11:g.73799689C>G , CM000664.1:g.73799689C>G	GRCh37
NC_000002.10:g.73653197C>G	NCBI36
NG_011690.1:g.191810C>G , LRG_741:g.191810C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10304C>G	ENSP00000507671.1:p.Thr3435Ser
ENST00000682801.1:c.10304C>G	ENSP00000507862.1:p.Thr3435Ser
ENST00000682859.1:c.10304C>G	ENSP00000508222.1:p.Thr3435Ser
ENST00000683791.1:c.3390C>G
ENST00000684460.1:c.7585C>G
ENST00000684548.1:c.10304C>G	ENSP00000507421.1:p.Thr3435Ser
ENST00000684590.1:c.4751C>G	ENSP00000507376.1:p.Thr1584Ser
ENST00000684656.1:c.7630C>G
ENST00000613296.6:c.10685C>G MANE Select	ENSP00000482968.1:p.Thr3562Ser
ENST00000651057.1:c.839C>G	ENSP00000498504.1:p.Thr280Ser
ENST00000651434.1:c.2041C>G
ENST00000651750.1:c.73C>G
ENST00000652487.1:c.1782C>G
ENST00000423048.5:c.4176C>G	ENSP00000399833.1:n.4176C>G
ENST00000484298.5:c.10559C>G	ENSP00000478155.1:p.Thr3520Ser
ENST00000613296.4:c.10685C>G	ENSP00000482968.1:p.Thr3562Ser
ENST00000614410.4:c.10685C>G	ENSP00000479094.1:p.Thr3562Ser
ENST00000620466.4:n.4488C>G
NM_015120.4:c.10688C>G , LRG_741t1:c.10688C>G	NP_055935.4:p.Thr3563Ser
NM_001378454.1:c.10685C>G MANE Select	NP_001365383.1:p.Thr3562Ser