Canonical Allele Identifier: CA347266243

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828441A>T (hg19) ; chr2:g.73601314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601314A>T , CM000664.2:g.73601314A>T	GRCh38
NC_000002.11:g.73828441A>T , CM000664.1:g.73828441A>T	GRCh37
NC_000002.10:g.73681949A>T	NCBI36
NG_011690.1:g.220562A>T , LRG_741:g.220562A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11611A>T	ENSP00000507671.1:p.Arg3871Trp
ENST00000682801.1:c.11167-871A>T	ENSP00000507862.1:n.11167-871A>T
ENST00000682859.1:c.11611A>T	ENSP00000508222.1:p.Arg3871Trp
ENST00000683791.1:c.4697A>T
ENST00000684460.1:c.8892A>T
ENST00000684548.1:c.11611A>T	ENSP00000507421.1:p.Arg3871Trp
ENST00000684590.1:c.6058A>T	ENSP00000507376.1:p.Arg2020Trp
ENST00000684656.1:c.9076A>T
ENST00000613296.6:c.11992A>T MANE Select	ENSP00000482968.1:p.Arg3998Trp
ENST00000651057.1:c.2146A>T	ENSP00000498504.1:p.Arg716Trp
ENST00000651434.1:c.3348A>T
ENST00000651750.1:c.1260+433A>T
ENST00000652487.1:c.3163A>T
ENST00000464408.3:n.167A>T
ENST00000484298.5:c.11866A>T	ENSP00000478155.1:p.Arg3956Trp
ENST00000613296.4:c.11992A>T	ENSP00000482968.1:p.Arg3998Trp
ENST00000620466.4:n.5795A>T
NM_015120.4:c.11995A>T , LRG_741t1:c.11995A>T	NP_055935.4:p.Arg3999Trp
NM_001378454.1:c.11992A>T MANE Select	NP_001365383.1:p.Arg3998Trp