Canonical Allele Identifier: CA426783798

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1119374
• ClinVar RCV Id: RCV001448797
• dbSNP Id: rs2104196632
• gnomAD v4: 2-73601427-A-C
• MyVariant Identifiers: chr2:g.73828554A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601427A>C , CM000664.2:g.73601427A>C	GRCh38
NC_000002.11:g.73828554A>C , CM000664.1:g.73828554A>C	GRCh37
NC_000002.10:g.73682062A>C	NCBI36
NG_011690.1:g.220675A>C , LRG_741:g.220675A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11724A>C	ENSP00000507671.1:p.Ala3908=
ENST00000682801.1:c.11167-758A>C	ENSP00000507862.1:n.11167-758A>C
ENST00000682859.1:c.11724A>C	ENSP00000508222.1:p.Ala3908=
ENST00000683791.1:c.4810A>C
ENST00000684460.1:c.9005A>C
ENST00000684548.1:c.11724A>C	ENSP00000507421.1:p.Ala3908=
ENST00000684590.1:c.6171A>C	ENSP00000507376.1:p.Ala2057=
ENST00000684656.1:c.9189A>C
ENST00000613296.6:c.12105A>C MANE Select	ENSP00000482968.1:p.Ala4035=
ENST00000651057.1:c.2259A>C	ENSP00000498504.1:p.Ala753=
ENST00000651434.1:c.3461A>C
ENST00000651750.1:c.1260+546A>C
ENST00000652487.1:c.3276A>C
ENST00000464408.3:n.280A>C
ENST00000484298.5:c.11979A>C	ENSP00000478155.1:p.Ala3993=
ENST00000613296.4:c.12105A>C	ENSP00000482968.1:p.Ala4035=
ENST00000620466.4:n.5908A>C
NM_015120.4:c.12108A>C , LRG_741t1:c.12108A>C	NP_055935.4:p.Ala4036=
NM_001378454.1:c.12105A>C MANE Select	NP_001365383.1:p.Ala4035=