Canonical Allele Identifier: CA347283447

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452357A>T , CM000664.2:g.73452357A>T	GRCh38
NC_000002.11:g.73679484A>T , CM000664.1:g.73679484A>T	GRCh37
NC_000002.10:g.73532992A>T	NCBI36
NG_011690.1:g.71605A>T , LRG_741:g.71605A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5830A>T MANE Select	NP_001365383.1:p.Arg1944Ter
ENST00000613296.6:c.5830A>T MANE Select	ENSP00000482968.1:p.Arg1944Ter
NM_015120.4:c.5833A>T , LRG_741t1:c.5833A>T	NP_055935.4:p.Arg1945Ter
ENST00000423048.5:c.661A>T	ENSP00000399833.1:p.Arg221Ter
ENST00000484298.5:c.5704A>T	ENSP00000478155.1:p.Arg1902Ter
ENST00000613296.4:c.5830A>T	ENSP00000482968.1:p.Arg1944Ter
ENST00000614410.4:c.5830A>T	ENSP00000479094.1:p.Arg1944Ter
ENST00000682565.1:c.5449A>T	ENSP00000507671.1:p.Arg1817Ter
ENST00000682801.1:c.5449A>T	ENSP00000507862.1:p.Arg1817Ter
ENST00000682859.1:c.5449A>T	ENSP00000508222.1:p.Arg1817Ter
ENST00000683791.1:c.685+20066A>T
ENST00000684197.1:n.799A>T
ENST00000684460.1:c.2901A>T
ENST00000684548.1:c.5449A>T	ENSP00000507421.1:p.Arg1817Ter
ENST00000684656.1:c.2901A>T