Canonical Allele Identifier: CA347266674

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2626194
• ClinVar RCV Id: RCV003382174
• MyVariant Identifiers: chr2:g.73828490G>C (hg19) ; chr2:g.73601363G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601363G>C , CM000664.2:g.73601363G>C	GRCh38
NC_000002.11:g.73828490G>C , CM000664.1:g.73828490G>C	GRCh37
NC_000002.10:g.73681998G>C	NCBI36
NG_011690.1:g.220611G>C , LRG_741:g.220611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11660G>C	ENSP00000507671.1:p.Arg3887Pro
ENST00000682801.1:c.11167-822G>C	ENSP00000507862.1:n.11167-822G>C
ENST00000682859.1:c.11660G>C	ENSP00000508222.1:p.Arg3887Pro
ENST00000683791.1:c.4746G>C
ENST00000684460.1:c.8941G>C
ENST00000684548.1:c.11660G>C	ENSP00000507421.1:p.Arg3887Pro
ENST00000684590.1:c.6107G>C	ENSP00000507376.1:p.Arg2036Pro
ENST00000684656.1:c.9125G>C
ENST00000613296.6:c.12041G>C MANE Select	ENSP00000482968.1:p.Arg4014Pro
ENST00000651057.1:c.2195G>C	ENSP00000498504.1:p.Arg732Pro
ENST00000651434.1:c.3397G>C
ENST00000651750.1:c.1260+482G>C
ENST00000652487.1:c.3212G>C
ENST00000464408.3:n.216G>C
ENST00000484298.5:c.11915G>C	ENSP00000478155.1:p.Arg3972Pro
ENST00000613296.4:c.12041G>C	ENSP00000482968.1:p.Arg4014Pro
ENST00000620466.4:n.5844G>C
NM_015120.4:c.12044G>C , LRG_741t1:c.12044G>C	NP_055935.4:p.Arg4015Pro
NM_001378454.1:c.12041G>C MANE Select	NP_001365383.1:p.Arg4014Pro