Canonical Allele Identifier: CA347261923

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73426506G>T , CM000664.2:g.73426506G>T	GRCh38
NC_000002.11:g.73653634G>T , CM000664.1:g.73653634G>T	GRCh37
NC_000002.10:g.73507142G>T	NCBI36
NG_011690.1:g.45752G>T , LRG_741:g.45752G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1291G>T MANE Select	NP_001365383.1:p.Glu431Ter
ENST00000613296.6:c.1291G>T MANE Select	ENSP00000482968.1:p.Glu431Ter
NM_015120.4:c.1294G>T , LRG_741t1:c.1294G>T	NP_055935.4:p.Glu432Ter
ENST00000484298.5:c.1165G>T	ENSP00000478155.1:p.Glu389Ter
ENST00000613296.4:c.1291G>T	ENSP00000482968.1:p.Glu431Ter
ENST00000614410.4:c.1291G>T	ENSP00000479094.1:p.Glu431Ter
ENST00000682565.1:c.841G>T	ENSP00000507671.1:p.Glu281Ter
ENST00000682801.1:c.841G>T	ENSP00000507862.1:p.Glu281Ter
ENST00000682859.1:c.841G>T	ENSP00000508222.1:p.Glu281Ter
ENST00000682889.1:n.1256G>T
ENST00000683791.1:c.591+1604G>T
ENST00000684548.1:c.841G>T	ENSP00000507421.1:p.Glu281Ter