Canonical Allele Identifier: CA347266226

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828439G>T (hg19) ; chr2:g.73601312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601312G>T , CM000664.2:g.73601312G>T	GRCh38
NC_000002.11:g.73828439G>T , CM000664.1:g.73828439G>T	GRCh37
NC_000002.10:g.73681947G>T	NCBI36
NG_011690.1:g.220560G>T , LRG_741:g.220560G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.11609G>T	ENSP00000507671.1:p.Trp3870Leu
ENST00000682801.1:c.11167-873G>T	ENSP00000507862.1:n.11167-873G>T
ENST00000682859.1:c.11609G>T	ENSP00000508222.1:p.Trp3870Leu
ENST00000683791.1:c.4695G>T
ENST00000684460.1:c.8890G>T
ENST00000684548.1:c.11609G>T	ENSP00000507421.1:p.Trp3870Leu
ENST00000684590.1:c.6056G>T	ENSP00000507376.1:p.Trp2019Leu
ENST00000684656.1:c.9074G>T
ENST00000613296.6:c.11990G>T MANE Select	ENSP00000482968.1:p.Trp3997Leu
ENST00000651057.1:c.2144G>T	ENSP00000498504.1:p.Trp715Leu
ENST00000651434.1:c.3346G>T
ENST00000651750.1:c.1260+431G>T
ENST00000652487.1:c.3161G>T
ENST00000464408.3:n.165G>T
ENST00000484298.5:c.11864G>T	ENSP00000478155.1:p.Trp3955Leu
ENST00000613296.4:c.11990G>T	ENSP00000482968.1:p.Trp3997Leu
ENST00000620466.4:n.5793G>T
NM_015120.4:c.11993G>T , LRG_741t1:c.11993G>T	NP_055935.4:p.Trp3998Leu
NM_001378454.1:c.11990G>T MANE Select	NP_001365383.1:p.Trp3997Leu