Canonical Allele Identifier: CA50386217

Gene: ALMS1

Linked Data

• dbSNP Id: rs974614753
• MyVariant Identifiers: chr2:g.73799512A>G (hg19) ; chr2:g.73572385A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572385A>G , CM000664.2:g.73572385A>G	GRCh38
NC_000002.11:g.73799512A>G , CM000664.1:g.73799512A>G	GRCh37
NC_000002.10:g.73653020A>G	NCBI36
NG_011690.1:g.191633A>G , LRG_741:g.191633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10127A>G	ENSP00000507671.1:p.Lys3376Arg
ENST00000682801.1:c.10127A>G	ENSP00000507862.1:p.Lys3376Arg
ENST00000682859.1:c.10127A>G	ENSP00000508222.1:p.Lys3376Arg
ENST00000683791.1:c.3213A>G
ENST00000684460.1:c.7408A>G
ENST00000684548.1:c.10127A>G	ENSP00000507421.1:p.Lys3376Arg
ENST00000684590.1:c.4574A>G	ENSP00000507376.1:p.Lys1525Arg
ENST00000684656.1:c.7453A>G
ENST00000613296.6:c.10508A>G MANE Select	ENSP00000482968.1:p.Lys3503Arg
ENST00000651057.1:c.662A>G	ENSP00000498504.1:p.Lys221Arg
ENST00000651434.1:c.1864A>G
ENST00000652487.1:c.1605A>G
ENST00000423048.5:c.3999A>G	ENSP00000399833.1:n.3999A>G
ENST00000484298.5:c.10382A>G	ENSP00000478155.1:p.Lys3461Arg
ENST00000613296.4:c.10508A>G	ENSP00000482968.1:p.Lys3503Arg
ENST00000614410.4:c.10508A>G	ENSP00000479094.1:p.Lys3503Arg
ENST00000620466.4:n.4311A>G
NM_015120.4:c.10511A>G , LRG_741t1:c.10511A>G	NP_055935.4:p.Lys3504Arg
NM_001378454.1:c.10508A>G MANE Select	NP_001365383.1:p.Lys3503Arg