Canonical Allele Identifier: CA427024489

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799783G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572656G>A , CM000664.2:g.73572656G>A	GRCh38
NC_000002.11:g.73799783G>A , CM000664.1:g.73799783G>A	GRCh37
NC_000002.10:g.73653291G>A	NCBI36
NG_011690.1:g.191904G>A , LRG_741:g.191904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10398G>A	ENSP00000507671.1:p.Gln3466=
ENST00000682801.1:c.10398G>A	ENSP00000507862.1:p.Gln3466=
ENST00000682859.1:c.10398G>A	ENSP00000508222.1:p.Gln3466=
ENST00000683791.1:c.3484G>A
ENST00000684460.1:c.7679G>A
ENST00000684548.1:c.10398G>A	ENSP00000507421.1:p.Gln3466=
ENST00000684590.1:c.4845G>A	ENSP00000507376.1:p.Gln1615=
ENST00000684656.1:c.7724G>A
ENST00000613296.6:c.10779G>A MANE Select	ENSP00000482968.1:p.Gln3593=
ENST00000651057.1:c.933G>A	ENSP00000498504.1:p.Gln311=
ENST00000651434.1:c.2135G>A
ENST00000651750.1:c.167G>A
ENST00000652487.1:c.1876G>A
ENST00000423048.5:c.4270G>A	ENSP00000399833.1:n.4270G>A
ENST00000484298.5:c.10653G>A	ENSP00000478155.1:p.Gln3551=
ENST00000613296.4:c.10779G>A	ENSP00000482968.1:p.Gln3593=
ENST00000614410.4:c.10779G>A	ENSP00000479094.1:p.Gln3593=
ENST00000620466.4:n.4582G>A
NM_015120.4:c.10782G>A , LRG_741t1:c.10782G>A	NP_055935.4:p.Gln3594=
NM_001378454.1:c.10779G>A MANE Select	NP_001365383.1:p.Gln3593=