Canonical Allele Identifier: CA347274922

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608521A>T , CM000664.2:g.73608521A>T	GRCh38
NC_000002.11:g.73835648A>T , CM000664.1:g.73835648A>T	GRCh37
NC_000002.10:g.73689156A>T	NCBI36
NG_011690.1:g.227769A>T , LRG_741:g.227769A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12409A>T MANE Select	NP_001365383.1:p.Lys4137Ter
ENST00000613296.6:c.12409A>T MANE Select	ENSP00000482968.1:p.Lys4137Ter
NM_015120.4:c.12412A>T , LRG_741t1:c.12412A>T	NP_055935.4:p.Lys4138Ter
ENST00000484298.5:c.12283A>T	ENSP00000478155.1:p.Lys4095Ter
ENST00000490821.1:n.53A>T
ENST00000613296.4:c.12409A>T	ENSP00000482968.1:p.Lys4137Ter
ENST00000651057.1:c.2563A>T	ENSP00000498504.1:p.Lys855Ter
ENST00000651434.1:c.3765A>T
ENST00000651750.1:c.1555A>T
ENST00000652487.1:c.3580A>T
ENST00000682565.1:c.12106A>T	ENSP00000507671.1:n.12106A>T
ENST00000682801.1:c.11461A>T	ENSP00000507862.1:p.Lys3821Ter
ENST00000682859.1:c.12028A>T	ENSP00000508222.1:p.Lys4010Ter
ENST00000683108.1:n.151A>T
ENST00000683147.1:n.3488A>T
ENST00000683791.1:c.5114A>T
ENST00000684460.1:c.9309A>T
ENST00000684548.1:c.12028A>T	ENSP00000507421.1:p.Lys4010Ter
ENST00000684590.1:c.6475A>T	ENSP00000507376.1:p.Lys2159Ter
ENST00000684656.1:c.9493A>T