Canonical Allele Identifier: CA426783584

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828482G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601355G>A , CM000664.2:g.73601355G>A	GRCh38
NC_000002.11:g.73828482G>A , CM000664.1:g.73828482G>A	GRCh37
NC_000002.10:g.73681990G>A	NCBI36
NG_011690.1:g.220603G>A , LRG_741:g.220603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11652G>A	ENSP00000507671.1:p.Leu3884=
ENST00000682801.1:c.11167-830G>A	ENSP00000507862.1:n.11167-830G>A
ENST00000682859.1:c.11652G>A	ENSP00000508222.1:p.Leu3884=
ENST00000683791.1:c.4738G>A
ENST00000684460.1:c.8933G>A
ENST00000684548.1:c.11652G>A	ENSP00000507421.1:p.Leu3884=
ENST00000684590.1:c.6099G>A	ENSP00000507376.1:p.Leu2033=
ENST00000684656.1:c.9117G>A
ENST00000613296.6:c.12033G>A MANE Select	ENSP00000482968.1:p.Leu4011=
ENST00000651057.1:c.2187G>A	ENSP00000498504.1:p.Leu729=
ENST00000651434.1:c.3389G>A
ENST00000651750.1:c.1260+474G>A
ENST00000652487.1:c.3204G>A
ENST00000464408.3:n.208G>A
ENST00000484298.5:c.11907G>A	ENSP00000478155.1:p.Leu3969=
ENST00000613296.4:c.12033G>A	ENSP00000482968.1:p.Leu4011=
ENST00000620466.4:n.5836G>A
NM_015120.4:c.12036G>A , LRG_741t1:c.12036G>A	NP_055935.4:p.Leu4012=
NM_001378454.1:c.12033G>A MANE Select	NP_001365383.1:p.Leu4011=