Canonical Allele Identifier: CA347266269

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828444G>A (hg19) ; chr2:g.73601317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601317G>A , CM000664.2:g.73601317G>A	GRCh38
NC_000002.11:g.73828444G>A , CM000664.1:g.73828444G>A	GRCh37
NC_000002.10:g.73681952G>A	NCBI36
NG_011690.1:g.220565G>A , LRG_741:g.220565G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.11614G>A	ENSP00000507671.1:p.Glu3872Lys
ENST00000682801.1:c.11167-868G>A	ENSP00000507862.1:n.11167-868G>A
ENST00000682859.1:c.11614G>A	ENSP00000508222.1:p.Glu3872Lys
ENST00000683791.1:c.4700G>A
ENST00000684460.1:c.8895G>A
ENST00000684548.1:c.11614G>A	ENSP00000507421.1:p.Glu3872Lys
ENST00000684590.1:c.6061G>A	ENSP00000507376.1:p.Glu2021Lys
ENST00000684656.1:c.9079G>A
ENST00000613296.6:c.11995G>A MANE Select	ENSP00000482968.1:p.Glu3999Lys
ENST00000651057.1:c.2149G>A	ENSP00000498504.1:p.Glu717Lys
ENST00000651434.1:c.3351G>A
ENST00000651750.1:c.1260+436G>A
ENST00000652487.1:c.3166G>A
ENST00000464408.3:n.170G>A
ENST00000484298.5:c.11869G>A	ENSP00000478155.1:p.Glu3957Lys
ENST00000613296.4:c.11995G>A	ENSP00000482968.1:p.Glu3999Lys
ENST00000620466.4:n.5798G>A
NM_015120.4:c.11998G>A , LRG_741t1:c.11998G>A	NP_055935.4:p.Glu4000Lys
NM_001378454.1:c.11995G>A MANE Select	NP_001365383.1:p.Glu3999Lys