Canonical Allele Identifier: CA347265832

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601265T>A , CM000664.2:g.73601265T>A	GRCh38
NC_000002.11:g.73828392T>A , CM000664.1:g.73828392T>A	GRCh37
NC_000002.10:g.73681900T>A	NCBI36
NG_011690.1:g.220513T>A , LRG_741:g.220513T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11943T>A MANE Select	NP_001365383.1:p.Cys3981Ter
ENST00000613296.6:c.11943T>A MANE Select	ENSP00000482968.1:p.Cys3981Ter
NM_015120.4:c.11946T>A , LRG_741t1:c.11946T>A	NP_055935.4:p.Cys3982Ter
ENST00000464408.3:n.118T>A
ENST00000484298.5:c.11817T>A	ENSP00000478155.1:p.Cys3939Ter
ENST00000613296.4:c.11943T>A	ENSP00000482968.1:p.Cys3981Ter
ENST00000620466.4:n.5746T>A
ENST00000651057.1:c.2097T>A	ENSP00000498504.1:p.Cys699Ter
ENST00000651434.1:c.3299T>A
ENST00000651750.1:c.1260+384T>A
ENST00000652487.1:c.3114T>A
ENST00000682565.1:c.11562T>A	ENSP00000507671.1:p.Cys3854Ter
ENST00000682801.1:c.11167-920T>A	ENSP00000507862.1:n.11167-920T>A
ENST00000682859.1:c.11562T>A	ENSP00000508222.1:p.Cys3854Ter
ENST00000683791.1:c.4648T>A
ENST00000684460.1:c.8843T>A
ENST00000684548.1:c.11562T>A	ENSP00000507421.1:p.Cys3854Ter
ENST00000684590.1:c.6009T>A	ENSP00000507376.1:p.Cys2003Ter
ENST00000684656.1:c.9027T>A