Canonical Allele Identifier: CA347283777

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452414G>T , CM000664.2:g.73452414G>T	GRCh38
NC_000002.11:g.73679541G>T , CM000664.1:g.73679541G>T	GRCh37
NC_000002.10:g.73533049G>T	NCBI36
NG_011690.1:g.71662G>T , LRG_741:g.71662G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5887G>T MANE Select	NP_001365383.1:p.Glu1963Ter
ENST00000613296.6:c.5887G>T MANE Select	ENSP00000482968.1:p.Glu1963Ter
NM_015120.4:c.5890G>T , LRG_741t1:c.5890G>T	NP_055935.4:p.Glu1964Ter
ENST00000423048.5:c.718G>T	ENSP00000399833.1:p.Glu240Ter
ENST00000484298.5:c.5761G>T	ENSP00000478155.1:p.Glu1921Ter
ENST00000613296.4:c.5887G>T	ENSP00000482968.1:p.Glu1963Ter
ENST00000614410.4:c.5887G>T	ENSP00000479094.1:p.Glu1963Ter
ENST00000682565.1:c.5506G>T	ENSP00000507671.1:p.Glu1836Ter
ENST00000682801.1:c.5506G>T	ENSP00000507862.1:p.Glu1836Ter
ENST00000682859.1:c.5506G>T	ENSP00000508222.1:p.Glu1836Ter
ENST00000683791.1:c.685+20123G>T
ENST00000684197.1:n.856G>T
ENST00000684460.1:c.2958G>T
ENST00000684548.1:c.5506G>T	ENSP00000507421.1:p.Glu1836Ter
ENST00000684590.1:c.4G>T	ENSP00000507376.1:p.Glu2Ter
ENST00000684656.1:c.2958G>T