Canonical Allele Identifier: CA347264508

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73600793G>A , CM000664.2:g.73600793G>A	GRCh38
NC_000002.11:g.73827920G>A , CM000664.1:g.73827920G>A	GRCh37
NC_000002.10:g.73681428G>A	NCBI36
NG_011690.1:g.220041G>A , LRG_741:g.220041G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11784G>A MANE Select	NP_001365383.1:p.Trp3928Ter
ENST00000613296.6:c.11784G>A MANE Select	ENSP00000482968.1:p.Trp3928Ter
NM_015120.4:c.11787G>A , LRG_741t1:c.11787G>A	NP_055935.4:p.Trp3929Ter
ENST00000484298.5:c.11658G>A	ENSP00000478155.1:p.Trp3886Ter
ENST00000613296.4:c.11784G>A	ENSP00000482968.1:p.Trp3928Ter
ENST00000620466.4:n.5587G>A
ENST00000651057.1:c.1938G>A	ENSP00000498504.1:p.Trp646Ter
ENST00000651434.1:c.3140G>A
ENST00000651750.1:c.1172G>A
ENST00000652487.1:c.2955G>A
ENST00000682565.1:c.11403G>A	ENSP00000507671.1:p.Trp3801Ter
ENST00000682801.1:c.11167-1392G>A	ENSP00000507862.1:n.11167-1392G>A
ENST00000682859.1:c.11403G>A	ENSP00000508222.1:p.Trp3801Ter
ENST00000683791.1:c.4489G>A
ENST00000684460.1:c.8684G>A
ENST00000684548.1:c.11403G>A	ENSP00000507421.1:p.Trp3801Ter
ENST00000684590.1:c.5850G>A	ENSP00000507376.1:p.Trp1950Ter
ENST00000684656.1:c.8868G>A