Canonical Allele Identifier: CA347284948

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2141309
• ClinVar RCV Id: RCV003060333
• dbSNP Id: rs1193489151
• gnomAD v3: 2-73572580-G-C
• gnomAD v4: 2-73572580-G-C
• MyVariant Identifiers: chr2:g.73799707G>C (hg19) ; chr2:g.73572580G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572580G>C , CM000664.2:g.73572580G>C	GRCh38
NC_000002.11:g.73799707G>C , CM000664.1:g.73799707G>C	GRCh37
NC_000002.10:g.73653215G>C	NCBI36
NG_011690.1:g.191828G>C , LRG_741:g.191828G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10322G>C	ENSP00000507671.1:p.Arg3441Thr
ENST00000682801.1:c.10322G>C	ENSP00000507862.1:p.Arg3441Thr
ENST00000682859.1:c.10322G>C	ENSP00000508222.1:p.Arg3441Thr
ENST00000683791.1:c.3408G>C
ENST00000684460.1:c.7603G>C
ENST00000684548.1:c.10322G>C	ENSP00000507421.1:p.Arg3441Thr
ENST00000684590.1:c.4769G>C	ENSP00000507376.1:p.Arg1590Thr
ENST00000684656.1:c.7648G>C
ENST00000613296.6:c.10703G>C MANE Select	ENSP00000482968.1:p.Arg3568Thr
ENST00000651057.1:c.857G>C	ENSP00000498504.1:p.Arg286Thr
ENST00000651434.1:c.2059G>C
ENST00000651750.1:c.91G>C
ENST00000652487.1:c.1800G>C
ENST00000423048.5:c.4194G>C	ENSP00000399833.1:n.4194G>C
ENST00000484298.5:c.10577G>C	ENSP00000478155.1:p.Arg3526Thr
ENST00000613296.4:c.10703G>C	ENSP00000482968.1:p.Arg3568Thr
ENST00000614410.4:c.10703G>C	ENSP00000479094.1:p.Arg3568Thr
ENST00000620466.4:n.4506G>C
NM_015120.4:c.10706G>C , LRG_741t1:c.10706G>C	NP_055935.4:p.Arg3569Thr
NM_001378454.1:c.10703G>C MANE Select	NP_001365383.1:p.Arg3568Thr