Canonical Allele Identifier: CA427024455

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2728596
• ClinVar RCV Id: RCV003504337
• dbSNP Id: rs1674970121
• gnomAD v3: 2-73572908-G-A
• gnomAD v4: 2-73572908-G-A
• MyVariant Identifiers: chr2:g.73800035G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572908G>A , CM000664.2:g.73572908G>A	GRCh38
NC_000002.11:g.73800035G>A , CM000664.1:g.73800035G>A	GRCh37
NC_000002.10:g.73653543G>A	NCBI36
NG_011690.1:g.192156G>A , LRG_741:g.192156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10650G>A	ENSP00000507671.1:p.Lys3550=
ENST00000682801.1:c.10650G>A	ENSP00000507862.1:p.Lys3550=
ENST00000682859.1:c.10650G>A	ENSP00000508222.1:p.Lys3550=
ENST00000683791.1:c.3736G>A
ENST00000684460.1:c.7931G>A
ENST00000684548.1:c.10650G>A	ENSP00000507421.1:p.Lys3550=
ENST00000684590.1:c.5097G>A	ENSP00000507376.1:p.Lys1699=
ENST00000684656.1:c.7976G>A
ENST00000613296.6:c.11031G>A MANE Select	ENSP00000482968.1:p.Lys3677=
ENST00000651057.1:c.1185G>A	ENSP00000498504.1:p.Lys395=
ENST00000651434.1:c.2387G>A
ENST00000651750.1:c.419G>A
ENST00000652487.1:c.2128G>A
ENST00000423048.5:c.4522G>A	ENSP00000399833.1:n.4522G>A
ENST00000484298.5:c.10905G>A	ENSP00000478155.1:p.Lys3635=
ENST00000613296.4:c.11031G>A	ENSP00000482968.1:p.Lys3677=
ENST00000614410.4:c.11031G>A	ENSP00000479094.1:p.Lys3677=
ENST00000620466.4:n.4834G>A
NM_015120.4:c.11034G>A , LRG_741t1:c.11034G>A	NP_055935.4:p.Lys3678=
NM_001378454.1:c.11031G>A MANE Select	NP_001365383.1:p.Lys3677=