Canonical Allele Identifier: CA347261994

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73426539G>T , CM000664.2:g.73426539G>T	GRCh38
NC_000002.11:g.73653667G>T , CM000664.1:g.73653667G>T	GRCh37
NC_000002.10:g.73507175G>T	NCBI36
NG_011690.1:g.45785G>T , LRG_741:g.45785G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1324G>T MANE Select	NP_001365383.1:p.Glu442Ter
ENST00000613296.6:c.1324G>T MANE Select	ENSP00000482968.1:p.Glu442Ter
NM_015120.4:c.1327G>T , LRG_741t1:c.1327G>T	NP_055935.4:p.Glu443Ter
ENST00000484298.5:c.1198G>T	ENSP00000478155.1:p.Glu400Ter
ENST00000613296.4:c.1324G>T	ENSP00000482968.1:p.Glu442Ter
ENST00000614410.4:c.1324G>T	ENSP00000479094.1:p.Glu442Ter
ENST00000682565.1:c.874G>T	ENSP00000507671.1:p.Glu292Ter
ENST00000682801.1:c.874G>T	ENSP00000507862.1:p.Glu292Ter
ENST00000682859.1:c.874G>T	ENSP00000508222.1:p.Glu292Ter
ENST00000682889.1:n.1289G>T
ENST00000683791.1:c.591+1637G>T
ENST00000684548.1:c.874G>T	ENSP00000507421.1:p.Glu292Ter