Canonical Allele Identifier: CA347266510

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2095558
• ClinVar RCV Id: RCV003013826
• MyVariant Identifiers: chr2:g.73828471G>C (hg19) ; chr2:g.73601344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601344G>C , CM000664.2:g.73601344G>C	GRCh38
NC_000002.11:g.73828471G>C , CM000664.1:g.73828471G>C	GRCh37
NC_000002.10:g.73681979G>C	NCBI36
NG_011690.1:g.220592G>C , LRG_741:g.220592G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11641G>C	ENSP00000507671.1:p.Gly3881Arg
ENST00000682801.1:c.11167-841G>C	ENSP00000507862.1:n.11167-841G>C
ENST00000682859.1:c.11641G>C	ENSP00000508222.1:p.Gly3881Arg
ENST00000683791.1:c.4727G>C
ENST00000684460.1:c.8922G>C
ENST00000684548.1:c.11641G>C	ENSP00000507421.1:p.Gly3881Arg
ENST00000684590.1:c.6088G>C	ENSP00000507376.1:p.Gly2030Arg
ENST00000684656.1:c.9106G>C
ENST00000613296.6:c.12022G>C MANE Select	ENSP00000482968.1:p.Gly4008Arg
ENST00000651057.1:c.2176G>C	ENSP00000498504.1:p.Gly726Arg
ENST00000651434.1:c.3378G>C
ENST00000651750.1:c.1260+463G>C
ENST00000652487.1:c.3193G>C
ENST00000464408.3:n.197G>C
ENST00000484298.5:c.11896G>C	ENSP00000478155.1:p.Gly3966Arg
ENST00000613296.4:c.12022G>C	ENSP00000482968.1:p.Gly4008Arg
ENST00000620466.4:n.5825G>C
NM_015120.4:c.12025G>C , LRG_741t1:c.12025G>C	NP_055935.4:p.Gly4009Arg
NM_001378454.1:c.12022G>C MANE Select	NP_001365383.1:p.Gly4008Arg