Canonical Allele Identifier: CA1714321

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1760164
• ClinVar RCV Id: RCV002400540 ; RCV003099716
• dbSNP Id: rs554047243
• ExAC: 2:73716776 C / T
• gnomAD v2: 2-73716776-C-T
• gnomAD v3: 2-73489649-C-T
• gnomAD v4: 2-73489649-C-T
• MyVariant Identifiers: chr2:g.73716776C>T (hg19) ; chr2:g.73489649C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7309C>T	ENSP00000507671.1:p.Arg2437Trp
ENST00000682801.1:c.7309C>T	ENSP00000507862.1:p.Arg2437Trp
ENST00000682859.1:c.7309C>T	ENSP00000508222.1:p.Arg2437Trp
ENST00000683791.1:c.701C>T
ENST00000684460.1:c.4761C>T
ENST00000684548.1:c.7309C>T	ENSP00000507421.1:p.Arg2437Trp
ENST00000684590.1:c.1756C>T	ENSP00000507376.1:p.Arg586Trp
ENST00000684656.1:c.4761C>T
ENST00000613296.6:c.7690C>T MANE Select	ENSP00000482968.1:p.Arg2564Trp
ENST00000651434.1:c.896-30126C>T
ENST00000423048.5:c.2521C>T	ENSP00000399833.1:p.Arg841Trp
ENST00000484298.5:c.7564C>T	ENSP00000478155.1:p.Arg2522Trp
ENST00000613296.4:c.7690C>T	ENSP00000482968.1:p.Arg2564Trp
ENST00000614410.4:c.7690C>T	ENSP00000479094.1:p.Arg2564Trp
ENST00000620466.4:n.1493C>T
NM_015120.4:c.7693C>T , LRG_741t1:c.7693C>T	NP_055935.4:p.Arg2565Trp
NM_001378454.1:c.7690C>T MANE Select	NP_001365383.1:p.Arg2564Trp