Canonical Allele Identifier: CA347266338

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828453C>G (hg19) ; chr2:g.73601326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601326C>G , CM000664.2:g.73601326C>G	GRCh38
NC_000002.11:g.73828453C>G , CM000664.1:g.73828453C>G	GRCh37
NC_000002.10:g.73681961C>G	NCBI36
NG_011690.1:g.220574C>G , LRG_741:g.220574C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11623C>G	ENSP00000507671.1:p.Arg3875Gly
ENST00000682801.1:c.11167-859C>G	ENSP00000507862.1:n.11167-859C>G
ENST00000682859.1:c.11623C>G	ENSP00000508222.1:p.Arg3875Gly
ENST00000683791.1:c.4709C>G
ENST00000684460.1:c.8904C>G
ENST00000684548.1:c.11623C>G	ENSP00000507421.1:p.Arg3875Gly
ENST00000684590.1:c.6070C>G	ENSP00000507376.1:p.Arg2024Gly
ENST00000684656.1:c.9088C>G
ENST00000613296.6:c.12004C>G MANE Select	ENSP00000482968.1:p.Arg4002Gly
ENST00000651057.1:c.2158C>G	ENSP00000498504.1:p.Arg720Gly
ENST00000651434.1:c.3360C>G
ENST00000651750.1:c.1260+445C>G
ENST00000652487.1:c.3175C>G
ENST00000464408.3:n.179C>G
ENST00000484298.5:c.11878C>G	ENSP00000478155.1:p.Arg3960Gly
ENST00000613296.4:c.12004C>G	ENSP00000482968.1:p.Arg4002Gly
ENST00000620466.4:n.5807C>G
NM_015120.4:c.12007C>G , LRG_741t1:c.12007C>G	NP_055935.4:p.Arg4003Gly
NM_001378454.1:c.12004C>G MANE Select	NP_001365383.1:p.Arg4002Gly