Canonical Allele Identifier: CA347284358

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799638T>A (hg19) ; chr2:g.73572511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572511T>A , CM000664.2:g.73572511T>A	GRCh38
NC_000002.11:g.73799638T>A , CM000664.1:g.73799638T>A	GRCh37
NC_000002.10:g.73653146T>A	NCBI36
NG_011690.1:g.191759T>A , LRG_741:g.191759T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10253T>A	ENSP00000507671.1:p.Ile3418Lys
ENST00000682801.1:c.10253T>A	ENSP00000507862.1:p.Ile3418Lys
ENST00000682859.1:c.10253T>A	ENSP00000508222.1:p.Ile3418Lys
ENST00000683791.1:c.3339T>A
ENST00000684460.1:c.7534T>A
ENST00000684548.1:c.10253T>A	ENSP00000507421.1:p.Ile3418Lys
ENST00000684590.1:c.4700T>A	ENSP00000507376.1:p.Ile1567Lys
ENST00000684656.1:c.7579T>A
ENST00000613296.6:c.10634T>A MANE Select	ENSP00000482968.1:p.Ile3545Lys
ENST00000651057.1:c.788T>A	ENSP00000498504.1:p.Ile263Lys
ENST00000651434.1:c.1990T>A
ENST00000651750.1:c.22T>A
ENST00000652487.1:c.1731T>A
ENST00000423048.5:c.4125T>A	ENSP00000399833.1:n.4125T>A
ENST00000484298.5:c.10508T>A	ENSP00000478155.1:p.Ile3503Lys
ENST00000613296.4:c.10634T>A	ENSP00000482968.1:p.Ile3545Lys
ENST00000614410.4:c.10634T>A	ENSP00000479094.1:p.Ile3545Lys
ENST00000620466.4:n.4437T>A
NM_015120.4:c.10637T>A , LRG_741t1:c.10637T>A	NP_055935.4:p.Ile3546Lys
NM_001378454.1:c.10634T>A MANE Select	NP_001365383.1:p.Ile3545Lys