Canonical Allele Identifier: CA50377970

Gene: ALMS1

Linked Data

• dbSNP Id: rs35872753
• MyVariant Identifiers: chr2:g.73717158C>A (hg19) ; chr2:g.73490031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490031C>A , CM000664.2:g.73490031C>A	GRCh38
NC_000002.11:g.73717158C>A , CM000664.1:g.73717158C>A	GRCh37
NC_000002.10:g.73570666C>A	NCBI36
NG_011690.1:g.109279C>A , LRG_741:g.109279C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7691C>A	ENSP00000507671.1:p.Pro2564His
ENST00000682801.1:c.7691C>A	ENSP00000507862.1:p.Pro2564His
ENST00000682859.1:c.7691C>A	ENSP00000508222.1:p.Pro2564His
ENST00000683791.1:c.1083C>A
ENST00000684460.1:c.5143C>A
ENST00000684548.1:c.7691C>A	ENSP00000507421.1:p.Pro2564His
ENST00000684590.1:c.2138C>A	ENSP00000507376.1:p.Pro713His
ENST00000684656.1:c.5143C>A
ENST00000613296.6:c.8072C>A MANE Select	ENSP00000482968.1:p.Pro2691His
ENST00000651434.1:c.896-29744C>A
ENST00000423048.5:c.2903C>A	ENSP00000399833.1:p.Pro968His
ENST00000484298.5:c.7946C>A	ENSP00000478155.1:p.Pro2649His
ENST00000613296.4:c.8072C>A	ENSP00000482968.1:p.Pro2691His
ENST00000614410.4:c.8072C>A	ENSP00000479094.1:p.Pro2691His
ENST00000620466.4:n.1875C>A
NM_015120.4:c.8075C>A , LRG_741t1:c.8075C>A	NP_055935.4:p.Pro2692His
NM_001378454.1:c.8072C>A MANE Select	NP_001365383.1:p.Pro2691His