Canonical Allele Identifier: CA427024661

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2704190
• ClinVar RCV Id: RCV003503558
• MyVariant Identifiers: chr2:g.73799543T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572416T>C , CM000664.2:g.73572416T>C	GRCh38
NC_000002.11:g.73799543T>C , CM000664.1:g.73799543T>C	GRCh37
NC_000002.10:g.73653051T>C	NCBI36
NG_011690.1:g.191664T>C , LRG_741:g.191664T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10158T>C	ENSP00000507671.1:p.Asp3386=
ENST00000682801.1:c.10158T>C	ENSP00000507862.1:p.Asp3386=
ENST00000682859.1:c.10158T>C	ENSP00000508222.1:p.Asp3386=
ENST00000683791.1:c.3244T>C
ENST00000684460.1:c.7439T>C
ENST00000684548.1:c.10158T>C	ENSP00000507421.1:p.Asp3386=
ENST00000684590.1:c.4605T>C	ENSP00000507376.1:p.Asp1535=
ENST00000684656.1:c.7484T>C
ENST00000613296.6:c.10539T>C MANE Select	ENSP00000482968.1:p.Asp3513=
ENST00000651057.1:c.693T>C	ENSP00000498504.1:p.Asp231=
ENST00000651434.1:c.1895T>C
ENST00000652487.1:c.1636T>C
ENST00000423048.5:c.4030T>C	ENSP00000399833.1:n.4030T>C
ENST00000484298.5:c.10413T>C	ENSP00000478155.1:p.Asp3471=
ENST00000613296.4:c.10539T>C	ENSP00000482968.1:p.Asp3513=
ENST00000614410.4:c.10539T>C	ENSP00000479094.1:p.Asp3513=
ENST00000620466.4:n.4342T>C
NM_015120.4:c.10542T>C , LRG_741t1:c.10542T>C	NP_055935.4:p.Asp3514=
NM_001378454.1:c.10539T>C MANE Select	NP_001365383.1:p.Asp3513=