Canonical Allele Identifier: CA427024202

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1602132
• ClinVar RCV Id: RCV002137033
• dbSNP Id: rs868321585
• MyVariant Identifiers: chr2:g.73799975A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572848A>G , CM000664.2:g.73572848A>G	GRCh38
NC_000002.11:g.73799975A>G , CM000664.1:g.73799975A>G	GRCh37
NC_000002.10:g.73653483A>G	NCBI36
NG_011690.1:g.192096A>G , LRG_741:g.192096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10590A>G	ENSP00000507671.1:p.Glu3530=
ENST00000682801.1:c.10590A>G	ENSP00000507862.1:p.Glu3530=
ENST00000682859.1:c.10590A>G	ENSP00000508222.1:p.Glu3530=
ENST00000683791.1:c.3676A>G
ENST00000684460.1:c.7871A>G
ENST00000684548.1:c.10590A>G	ENSP00000507421.1:p.Glu3530=
ENST00000684590.1:c.5037A>G	ENSP00000507376.1:p.Glu1679=
ENST00000684656.1:c.7916A>G
ENST00000613296.6:c.10971A>G MANE Select	ENSP00000482968.1:p.Glu3657=
ENST00000651057.1:c.1125A>G	ENSP00000498504.1:p.Glu375=
ENST00000651434.1:c.2327A>G
ENST00000651750.1:c.359A>G
ENST00000652487.1:c.2068A>G
ENST00000423048.5:c.4462A>G	ENSP00000399833.1:n.4462A>G
ENST00000484298.5:c.10845A>G	ENSP00000478155.1:p.Glu3615=
ENST00000613296.4:c.10971A>G	ENSP00000482968.1:p.Glu3657=
ENST00000614410.4:c.10971A>G	ENSP00000479094.1:p.Glu3657=
ENST00000620466.4:n.4774A>G
NM_015120.4:c.10974A>G , LRG_741t1:c.10974A>G	NP_055935.4:p.Glu3658=
NM_001378454.1:c.10971A>G MANE Select	NP_001365383.1:p.Glu3657=