Canonical Allele Identifier: CA347263857

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1377690
• ClinVar RCV Id: RCV001888632
• dbSNP Id: rs554047243
• MyVariant Identifiers: chr2:g.73716776C>G (hg19) ; chr2:g.73489649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489649C>G , CM000664.2:g.73489649C>G	GRCh38
NC_000002.11:g.73716776C>G , CM000664.1:g.73716776C>G	GRCh37
NC_000002.10:g.73570284C>G	NCBI36
NG_011690.1:g.108897C>G , LRG_741:g.108897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7309C>G	ENSP00000507671.1:p.Arg2437Gly
ENST00000682801.1:c.7309C>G	ENSP00000507862.1:p.Arg2437Gly
ENST00000682859.1:c.7309C>G	ENSP00000508222.1:p.Arg2437Gly
ENST00000683791.1:c.701C>G
ENST00000684460.1:c.4761C>G
ENST00000684548.1:c.7309C>G	ENSP00000507421.1:p.Arg2437Gly
ENST00000684590.1:c.1756C>G	ENSP00000507376.1:p.Arg586Gly
ENST00000684656.1:c.4761C>G
ENST00000613296.6:c.7690C>G MANE Select	ENSP00000482968.1:p.Arg2564Gly
ENST00000651434.1:c.896-30126C>G
ENST00000423048.5:c.2521C>G	ENSP00000399833.1:p.Arg841Gly
ENST00000484298.5:c.7564C>G	ENSP00000478155.1:p.Arg2522Gly
ENST00000613296.4:c.7690C>G	ENSP00000482968.1:p.Arg2564Gly
ENST00000614410.4:c.7690C>G	ENSP00000479094.1:p.Arg2564Gly
ENST00000620466.4:n.1493C>G
NM_015120.4:c.7693C>G , LRG_741t1:c.7693C>G	NP_055935.4:p.Arg2565Gly
NM_001378454.1:c.7690C>G MANE Select	NP_001365383.1:p.Arg2564Gly