Canonical Allele Identifier: CA347286847

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1516706
• ClinVar RCV Id: RCV002040908
• dbSNP Id: rs1674969661
• MyVariant Identifiers: chr2:g.73800013G>C (hg19) ; chr2:g.73572886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572886G>C , CM000664.2:g.73572886G>C	GRCh38
NC_000002.11:g.73800013G>C , CM000664.1:g.73800013G>C	GRCh37
NC_000002.10:g.73653521G>C	NCBI36
NG_011690.1:g.192134G>C , LRG_741:g.192134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10628G>C	ENSP00000507671.1:p.Arg3543Thr
ENST00000682801.1:c.10628G>C	ENSP00000507862.1:p.Arg3543Thr
ENST00000682859.1:c.10628G>C	ENSP00000508222.1:p.Arg3543Thr
ENST00000683791.1:c.3714G>C
ENST00000684460.1:c.7909G>C
ENST00000684548.1:c.10628G>C	ENSP00000507421.1:p.Arg3543Thr
ENST00000684590.1:c.5075G>C	ENSP00000507376.1:p.Arg1692Thr
ENST00000684656.1:c.7954G>C
ENST00000613296.6:c.11009G>C MANE Select	ENSP00000482968.1:p.Arg3670Thr
ENST00000651057.1:c.1163G>C	ENSP00000498504.1:p.Arg388Thr
ENST00000651434.1:c.2365G>C
ENST00000651750.1:c.397G>C
ENST00000652487.1:c.2106G>C
ENST00000423048.5:c.4500G>C	ENSP00000399833.1:n.4500G>C
ENST00000484298.5:c.10883G>C	ENSP00000478155.1:p.Arg3628Thr
ENST00000613296.4:c.11009G>C	ENSP00000482968.1:p.Arg3670Thr
ENST00000614410.4:c.11009G>C	ENSP00000479094.1:p.Arg3670Thr
ENST00000620466.4:n.4812G>C
NM_015120.4:c.11012G>C , LRG_741t1:c.11012G>C	NP_055935.4:p.Arg3671Thr
NM_001378454.1:c.11009G>C MANE Select	NP_001365383.1:p.Arg3670Thr