Canonical Allele Identifier: CA427023970

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2778536
• ClinVar RCV Id: RCV003609345
• dbSNP Id: rs1277910156
• MyVariant Identifiers: chr2:g.73799867A>G (hg19) ; chr2:g.73572740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572740A>G , CM000664.2:g.73572740A>G	GRCh38
NC_000002.11:g.73799867A>G , CM000664.1:g.73799867A>G	GRCh37
NC_000002.10:g.73653375A>G	NCBI36
NG_011690.1:g.191988A>G , LRG_741:g.191988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10482A>G	ENSP00000507671.1:p.Lys3494=
ENST00000682801.1:c.10482A>G	ENSP00000507862.1:p.Lys3494=
ENST00000682859.1:c.10482A>G	ENSP00000508222.1:p.Lys3494=
ENST00000683791.1:c.3568A>G
ENST00000684460.1:c.7763A>G
ENST00000684548.1:c.10482A>G	ENSP00000507421.1:p.Lys3494=
ENST00000684590.1:c.4929A>G	ENSP00000507376.1:p.Lys1643=
ENST00000684656.1:c.7808A>G
ENST00000613296.6:c.10863A>G MANE Select	ENSP00000482968.1:p.Lys3621=
ENST00000651057.1:c.1017A>G	ENSP00000498504.1:p.Lys339=
ENST00000651434.1:c.2219A>G
ENST00000651750.1:c.251A>G
ENST00000652487.1:c.1960A>G
ENST00000423048.5:c.4354A>G	ENSP00000399833.1:n.4354A>G
ENST00000484298.5:c.10737A>G	ENSP00000478155.1:p.Lys3579=
ENST00000613296.4:c.10863A>G	ENSP00000482968.1:p.Lys3621=
ENST00000614410.4:c.10863A>G	ENSP00000479094.1:p.Lys3621=
ENST00000620466.4:n.4666A>G
NM_015120.4:c.10866A>G , LRG_741t1:c.10866A>G	NP_055935.4:p.Lys3622=
NM_001378454.1:c.10863A>G MANE Select	NP_001365383.1:p.Lys3621=