Canonical Allele Identifier: CA347266940

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828522G>T (hg19) ; chr2:g.73601395G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601395G>T , CM000664.2:g.73601395G>T	GRCh38
NC_000002.11:g.73828522G>T , CM000664.1:g.73828522G>T	GRCh37
NC_000002.10:g.73682030G>T	NCBI36
NG_011690.1:g.220643G>T , LRG_741:g.220643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11692G>T	ENSP00000507671.1:p.Gly3898Cys
ENST00000682801.1:c.11167-790G>T	ENSP00000507862.1:n.11167-790G>T
ENST00000682859.1:c.11692G>T	ENSP00000508222.1:p.Gly3898Cys
ENST00000683791.1:c.4778G>T
ENST00000684460.1:c.8973G>T
ENST00000684548.1:c.11692G>T	ENSP00000507421.1:p.Gly3898Cys
ENST00000684590.1:c.6139G>T	ENSP00000507376.1:p.Gly2047Cys
ENST00000684656.1:c.9157G>T
ENST00000613296.6:c.12073G>T MANE Select	ENSP00000482968.1:p.Gly4025Cys
ENST00000651057.1:c.2227G>T	ENSP00000498504.1:p.Gly743Cys
ENST00000651434.1:c.3429G>T
ENST00000651750.1:c.1260+514G>T
ENST00000652487.1:c.3244G>T
ENST00000464408.3:n.248G>T
ENST00000484298.5:c.11947G>T	ENSP00000478155.1:p.Gly3983Cys
ENST00000613296.4:c.12073G>T	ENSP00000482968.1:p.Gly4025Cys
ENST00000620466.4:n.5876G>T
NM_015120.4:c.12076G>T , LRG_741t1:c.12076G>T	NP_055935.4:p.Gly4026Cys
NM_001378454.1:c.12073G>T MANE Select	NP_001365383.1:p.Gly4025Cys