Canonical Allele Identifier: CA347267078

Gene: ALMS1

Linked Data

• dbSNP Id: rs1052161
• MyVariant Identifiers: chr2:g.73828538G>C (hg19) ; chr2:g.73601411G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601411G>C , CM000664.2:g.73601411G>C	GRCh38
NC_000002.11:g.73828538G>C , CM000664.1:g.73828538G>C	GRCh37
NC_000002.10:g.73682046G>C	NCBI36
NG_011690.1:g.220659G>C , LRG_741:g.220659G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.11708G>C	ENSP00000507671.1:p.Arg3903Thr
ENST00000682801.1:c.11167-774G>C	ENSP00000507862.1:n.11167-774G>C
ENST00000682859.1:c.11708G>C	ENSP00000508222.1:p.Arg3903Thr
ENST00000683791.1:c.4794G>C
ENST00000684460.1:c.8989G>C
ENST00000684548.1:c.11708G>C	ENSP00000507421.1:p.Arg3903Thr
ENST00000684590.1:c.6155G>C	ENSP00000507376.1:p.Arg2052Thr
ENST00000684656.1:c.9173G>C
ENST00000613296.6:c.12089G>C MANE Select	ENSP00000482968.1:p.Arg4030Thr
ENST00000651057.1:c.2243G>C	ENSP00000498504.1:p.Arg748Thr
ENST00000651434.1:c.3445G>C
ENST00000651750.1:c.1260+530G>C
ENST00000652487.1:c.3260G>C
ENST00000464408.3:n.264G>C
ENST00000484298.5:c.11963G>C	ENSP00000478155.1:p.Arg3988Thr
ENST00000613296.4:c.12089G>C	ENSP00000482968.1:p.Arg4030Thr
ENST00000620466.4:n.5892G>C
NM_015120.4:c.12092G>C , LRG_741t1:c.12092G>C	NP_055935.4:p.Arg4031Thr
NM_001378454.1:c.12089G>C MANE Select	NP_001365383.1:p.Arg4030Thr