Canonical Allele Identifier: CA347266344

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828454G>T (hg19) ; chr2:g.73601327G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601327G>T , CM000664.2:g.73601327G>T	GRCh38
NC_000002.11:g.73828454G>T , CM000664.1:g.73828454G>T	GRCh37
NC_000002.10:g.73681962G>T	NCBI36
NG_011690.1:g.220575G>T , LRG_741:g.220575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11624G>T	ENSP00000507671.1:p.Arg3875Leu
ENST00000682801.1:c.11167-858G>T	ENSP00000507862.1:n.11167-858G>T
ENST00000682859.1:c.11624G>T	ENSP00000508222.1:p.Arg3875Leu
ENST00000683791.1:c.4710G>T
ENST00000684460.1:c.8905G>T
ENST00000684548.1:c.11624G>T	ENSP00000507421.1:p.Arg3875Leu
ENST00000684590.1:c.6071G>T	ENSP00000507376.1:p.Arg2024Leu
ENST00000684656.1:c.9089G>T
ENST00000613296.6:c.12005G>T MANE Select	ENSP00000482968.1:p.Arg4002Leu
ENST00000651057.1:c.2159G>T	ENSP00000498504.1:p.Arg720Leu
ENST00000651434.1:c.3361G>T
ENST00000651750.1:c.1260+446G>T
ENST00000652487.1:c.3176G>T
ENST00000464408.3:n.180G>T
ENST00000484298.5:c.11879G>T	ENSP00000478155.1:p.Arg3960Leu
ENST00000613296.4:c.12005G>T	ENSP00000482968.1:p.Arg4002Leu
ENST00000620466.4:n.5808G>T
NM_015120.4:c.12008G>T , LRG_741t1:c.12008G>T	NP_055935.4:p.Arg4003Leu
NM_001378454.1:c.12005G>T MANE Select	NP_001365383.1:p.Arg4002Leu