Canonical Allele Identifier: CA347266917

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828519G>A (hg19) ; chr2:g.73601392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601392G>A , CM000664.2:g.73601392G>A	GRCh38
NC_000002.11:g.73828519G>A , CM000664.1:g.73828519G>A	GRCh37
NC_000002.10:g.73682027G>A	NCBI36
NG_011690.1:g.220640G>A , LRG_741:g.220640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11689G>A	ENSP00000507671.1:p.Ala3897Thr
ENST00000682801.1:c.11167-793G>A	ENSP00000507862.1:n.11167-793G>A
ENST00000682859.1:c.11689G>A	ENSP00000508222.1:p.Ala3897Thr
ENST00000683791.1:c.4775G>A
ENST00000684460.1:c.8970G>A
ENST00000684548.1:c.11689G>A	ENSP00000507421.1:p.Ala3897Thr
ENST00000684590.1:c.6136G>A	ENSP00000507376.1:p.Ala2046Thr
ENST00000684656.1:c.9154G>A
ENST00000613296.6:c.12070G>A MANE Select	ENSP00000482968.1:p.Ala4024Thr
ENST00000651057.1:c.2224G>A	ENSP00000498504.1:p.Ala742Thr
ENST00000651434.1:c.3426G>A
ENST00000651750.1:c.1260+511G>A
ENST00000652487.1:c.3241G>A
ENST00000464408.3:n.245G>A
ENST00000484298.5:c.11944G>A	ENSP00000478155.1:p.Ala3982Thr
ENST00000613296.4:c.12070G>A	ENSP00000482968.1:p.Ala4024Thr
ENST00000620466.4:n.5873G>A
NM_015120.4:c.12073G>A , LRG_741t1:c.12073G>A	NP_055935.4:p.Ala4025Thr
NM_001378454.1:c.12070G>A MANE Select	NP_001365383.1:p.Ala4024Thr