Canonical Allele Identifier: CA347266762

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828501G>A (hg19) ; chr2:g.73601374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601374G>A , CM000664.2:g.73601374G>A	GRCh38
NC_000002.11:g.73828501G>A , CM000664.1:g.73828501G>A	GRCh37
NC_000002.10:g.73682009G>A	NCBI36
NG_011690.1:g.220622G>A , LRG_741:g.220622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11671G>A	ENSP00000507671.1:p.Ala3891Thr
ENST00000682801.1:c.11167-811G>A	ENSP00000507862.1:n.11167-811G>A
ENST00000682859.1:c.11671G>A	ENSP00000508222.1:p.Ala3891Thr
ENST00000683791.1:c.4757G>A
ENST00000684460.1:c.8952G>A
ENST00000684548.1:c.11671G>A	ENSP00000507421.1:p.Ala3891Thr
ENST00000684590.1:c.6118G>A	ENSP00000507376.1:p.Ala2040Thr
ENST00000684656.1:c.9136G>A
ENST00000613296.6:c.12052G>A MANE Select	ENSP00000482968.1:p.Ala4018Thr
ENST00000651057.1:c.2206G>A	ENSP00000498504.1:p.Ala736Thr
ENST00000651434.1:c.3408G>A
ENST00000651750.1:c.1260+493G>A
ENST00000652487.1:c.3223G>A
ENST00000464408.3:n.227G>A
ENST00000484298.5:c.11926G>A	ENSP00000478155.1:p.Ala3976Thr
ENST00000613296.4:c.12052G>A	ENSP00000482968.1:p.Ala4018Thr
ENST00000620466.4:n.5855G>A
NM_015120.4:c.12055G>A , LRG_741t1:c.12055G>A	NP_055935.4:p.Ala4019Thr
NM_001378454.1:c.12052G>A MANE Select	NP_001365383.1:p.Ala4018Thr