Canonical Allele Identifier: CA427024196

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 774146
• ClinVar RCV Id: RCV001475963 ; RCV002445107
• dbSNP Id: rs1439789927
• gnomAD v2: 2-73799972-G-C
• gnomAD v3: 2-73572845-G-C
• gnomAD v4: 2-73572845-G-C
• MyVariant Identifiers: chr2:g.73799972G>C (hg19) ; chr2:g.73572845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572845G>C , CM000664.2:g.73572845G>C	GRCh38
NC_000002.11:g.73799972G>C , CM000664.1:g.73799972G>C	GRCh37
NC_000002.10:g.73653480G>C	NCBI36
NG_011690.1:g.192093G>C , LRG_741:g.192093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10587G>C	ENSP00000507671.1:p.Gly3529=
ENST00000682801.1:c.10587G>C	ENSP00000507862.1:p.Gly3529=
ENST00000682859.1:c.10587G>C	ENSP00000508222.1:p.Gly3529=
ENST00000683791.1:c.3673G>C
ENST00000684460.1:c.7868G>C
ENST00000684548.1:c.10587G>C	ENSP00000507421.1:p.Gly3529=
ENST00000684590.1:c.5034G>C	ENSP00000507376.1:p.Gly1678=
ENST00000684656.1:c.7913G>C
ENST00000613296.6:c.10968G>C MANE Select	ENSP00000482968.1:p.Gly3656=
ENST00000651057.1:c.1122G>C	ENSP00000498504.1:p.Gly374=
ENST00000651434.1:c.2324G>C
ENST00000651750.1:c.356G>C
ENST00000652487.1:c.2065G>C
ENST00000423048.5:c.4459G>C	ENSP00000399833.1:n.4459G>C
ENST00000484298.5:c.10842G>C	ENSP00000478155.1:p.Gly3614=
ENST00000613296.4:c.10968G>C	ENSP00000482968.1:p.Gly3656=
ENST00000614410.4:c.10968G>C	ENSP00000479094.1:p.Gly3656=
ENST00000620466.4:n.4771G>C
NM_015120.4:c.10971G>C , LRG_741t1:c.10971G>C	NP_055935.4:p.Gly3657=
NM_001378454.1:c.10968G>C MANE Select	NP_001365383.1:p.Gly3656=