Canonical Allele Identifier: CA347266247

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828442G>A (hg19) ; chr2:g.73601315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601315G>A , CM000664.2:g.73601315G>A	GRCh38
NC_000002.11:g.73828442G>A , CM000664.1:g.73828442G>A	GRCh37
NC_000002.10:g.73681950G>A	NCBI36
NG_011690.1:g.220563G>A , LRG_741:g.220563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11612G>A	ENSP00000507671.1:p.Arg3871Lys
ENST00000682801.1:c.11167-870G>A	ENSP00000507862.1:n.11167-870G>A
ENST00000682859.1:c.11612G>A	ENSP00000508222.1:p.Arg3871Lys
ENST00000683791.1:c.4698G>A
ENST00000684460.1:c.8893G>A
ENST00000684548.1:c.11612G>A	ENSP00000507421.1:p.Arg3871Lys
ENST00000684590.1:c.6059G>A	ENSP00000507376.1:p.Arg2020Lys
ENST00000684656.1:c.9077G>A
ENST00000613296.6:c.11993G>A MANE Select	ENSP00000482968.1:p.Arg3998Lys
ENST00000651057.1:c.2147G>A	ENSP00000498504.1:p.Arg716Lys
ENST00000651434.1:c.3349G>A
ENST00000651750.1:c.1260+434G>A
ENST00000652487.1:c.3164G>A
ENST00000464408.3:n.168G>A
ENST00000484298.5:c.11867G>A	ENSP00000478155.1:p.Arg3956Lys
ENST00000613296.4:c.11993G>A	ENSP00000482968.1:p.Arg3998Lys
ENST00000620466.4:n.5796G>A
NM_015120.4:c.11996G>A , LRG_741t1:c.11996G>A	NP_055935.4:p.Arg3999Lys
NM_001378454.1:c.11993G>A MANE Select	NP_001365383.1:p.Arg3998Lys