Canonical Allele Identifier: CA347263839

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2636906
• ClinVar RCV Id: RCV003421082
• MyVariant Identifiers: chr2:g.73716767C>A (hg19) ; chr2:g.73489640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489640C>A , CM000664.2:g.73489640C>A	GRCh38
NC_000002.11:g.73716767C>A , CM000664.1:g.73716767C>A	GRCh37
NC_000002.10:g.73570275C>A	NCBI36
NG_011690.1:g.108888C>A , LRG_741:g.108888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7300C>A	ENSP00000507671.1:p.Gln2434Lys
ENST00000682801.1:c.7300C>A	ENSP00000507862.1:p.Gln2434Lys
ENST00000682859.1:c.7300C>A	ENSP00000508222.1:p.Gln2434Lys
ENST00000683791.1:c.692C>A
ENST00000684460.1:c.4752C>A
ENST00000684548.1:c.7300C>A	ENSP00000507421.1:p.Gln2434Lys
ENST00000684590.1:c.1747C>A	ENSP00000507376.1:p.Gln583Lys
ENST00000684656.1:c.4752C>A
ENST00000613296.6:c.7681C>A MANE Select	ENSP00000482968.1:p.Gln2561Lys
ENST00000651434.1:c.896-30135C>A
ENST00000423048.5:c.2512C>A	ENSP00000399833.1:p.Gln838Lys
ENST00000484298.5:c.7555C>A	ENSP00000478155.1:p.Gln2519Lys
ENST00000613296.4:c.7681C>A	ENSP00000482968.1:p.Gln2561Lys
ENST00000614410.4:c.7681C>A	ENSP00000479094.1:p.Gln2561Lys
ENST00000620466.4:n.1484C>A
NM_015120.4:c.7684C>A , LRG_741t1:c.7684C>A	NP_055935.4:p.Gln2562Lys
NM_001378454.1:c.7681C>A MANE Select	NP_001365383.1:p.Gln2561Lys