Canonical Allele Identifier: CA50386608

Gene: ALMS1

Linked Data

• dbSNP Id: rs45454200
• MyVariant Identifiers: chr2:g.73800001G>A (hg19) ; chr2:g.73572874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572874G>A , CM000664.2:g.73572874G>A	GRCh38
NC_000002.11:g.73800001G>A , CM000664.1:g.73800001G>A	GRCh37
NC_000002.10:g.73653509G>A	NCBI36
NG_011690.1:g.192122G>A , LRG_741:g.192122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10616G>A	ENSP00000507671.1:p.Arg3539Lys
ENST00000682801.1:c.10616G>A	ENSP00000507862.1:p.Arg3539Lys
ENST00000682859.1:c.10616G>A	ENSP00000508222.1:p.Arg3539Lys
ENST00000683791.1:c.3702G>A
ENST00000684460.1:c.7897G>A
ENST00000684548.1:c.10616G>A	ENSP00000507421.1:p.Arg3539Lys
ENST00000684590.1:c.5063G>A	ENSP00000507376.1:p.Arg1688Lys
ENST00000684656.1:c.7942G>A
ENST00000613296.6:c.10997G>A MANE Select	ENSP00000482968.1:p.Arg3666Lys
ENST00000651057.1:c.1151G>A	ENSP00000498504.1:p.Arg384Lys
ENST00000651434.1:c.2353G>A
ENST00000651750.1:c.385G>A
ENST00000652487.1:c.2094G>A
ENST00000423048.5:c.4488G>A	ENSP00000399833.1:n.4488G>A
ENST00000484298.5:c.10871G>A	ENSP00000478155.1:p.Arg3624Lys
ENST00000613296.4:c.10997G>A	ENSP00000482968.1:p.Arg3666Lys
ENST00000614410.4:c.10997G>A	ENSP00000479094.1:p.Arg3666Lys
ENST00000620466.4:n.4800G>A
NM_015120.4:c.11000G>A , LRG_741t1:c.11000G>A	NP_055935.4:p.Arg3667Lys
NM_001378454.1:c.10997G>A MANE Select	NP_001365383.1:p.Arg3666Lys