Canonical Allele Identifier: CA427024169

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799693T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572566T>A , CM000664.2:g.73572566T>A	GRCh38
NC_000002.11:g.73799693T>A , CM000664.1:g.73799693T>A	GRCh37
NC_000002.10:g.73653201T>A	NCBI36
NG_011690.1:g.191814T>A , LRG_741:g.191814T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10308T>A	ENSP00000507671.1:p.Thr3436=
ENST00000682801.1:c.10308T>A	ENSP00000507862.1:p.Thr3436=
ENST00000682859.1:c.10308T>A	ENSP00000508222.1:p.Thr3436=
ENST00000683791.1:c.3394T>A
ENST00000684460.1:c.7589T>A
ENST00000684548.1:c.10308T>A	ENSP00000507421.1:p.Thr3436=
ENST00000684590.1:c.4755T>A	ENSP00000507376.1:p.Thr1585=
ENST00000684656.1:c.7634T>A
ENST00000613296.6:c.10689T>A MANE Select	ENSP00000482968.1:p.Thr3563=
ENST00000651057.1:c.843T>A	ENSP00000498504.1:p.Thr281=
ENST00000651434.1:c.2045T>A
ENST00000651750.1:c.77T>A
ENST00000652487.1:c.1786T>A
ENST00000423048.5:c.4180T>A	ENSP00000399833.1:n.4180T>A
ENST00000484298.5:c.10563T>A	ENSP00000478155.1:p.Thr3521=
ENST00000613296.4:c.10689T>A	ENSP00000482968.1:p.Thr3563=
ENST00000614410.4:c.10689T>A	ENSP00000479094.1:p.Thr3563=
ENST00000620466.4:n.4492T>A
NM_015120.4:c.10692T>A , LRG_741t1:c.10692T>A	NP_055935.4:p.Thr3564=
NM_001378454.1:c.10689T>A MANE Select	NP_001365383.1:p.Thr3563=