Canonical Allele Identifier: CA427024603

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1635158
• ClinVar RCV Id: RCV002133240
• dbSNP Id: rs2104105279
• MyVariant Identifiers: chr2:g.73799831G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572704G>A , CM000664.2:g.73572704G>A	GRCh38
NC_000002.11:g.73799831G>A , CM000664.1:g.73799831G>A	GRCh37
NC_000002.10:g.73653339G>A	NCBI36
NG_011690.1:g.191952G>A , LRG_741:g.191952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10446G>A	ENSP00000507671.1:p.Gln3482=
ENST00000682801.1:c.10446G>A	ENSP00000507862.1:p.Gln3482=
ENST00000682859.1:c.10446G>A	ENSP00000508222.1:p.Gln3482=
ENST00000683791.1:c.3532G>A
ENST00000684460.1:c.7727G>A
ENST00000684548.1:c.10446G>A	ENSP00000507421.1:p.Gln3482=
ENST00000684590.1:c.4893G>A	ENSP00000507376.1:p.Gln1631=
ENST00000684656.1:c.7772G>A
ENST00000613296.6:c.10827G>A MANE Select	ENSP00000482968.1:p.Gln3609=
ENST00000651057.1:c.981G>A	ENSP00000498504.1:p.Gln327=
ENST00000651434.1:c.2183G>A
ENST00000651750.1:c.215G>A
ENST00000652487.1:c.1924G>A
ENST00000423048.5:c.4318G>A	ENSP00000399833.1:n.4318G>A
ENST00000484298.5:c.10701G>A	ENSP00000478155.1:p.Gln3567=
ENST00000613296.4:c.10827G>A	ENSP00000482968.1:p.Gln3609=
ENST00000614410.4:c.10827G>A	ENSP00000479094.1:p.Gln3609=
ENST00000620466.4:n.4630G>A
NM_015120.4:c.10830G>A , LRG_741t1:c.10830G>A	NP_055935.4:p.Gln3610=
NM_001378454.1:c.10827G>A MANE Select	NP_001365383.1:p.Gln3609=