Canonical Allele Identifier: CA1715581

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608554C>T , CM000664.2:g.73608554C>T	GRCh38
NC_000002.11:g.73835681C>T , CM000664.1:g.73835681C>T	GRCh37
NC_000002.10:g.73689189C>T	NCBI36
NG_011690.1:g.227802C>T , LRG_741:g.227802C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12442C>T MANE Select	NP_001365383.1:p.Arg4148Ter
ENST00000613296.6:c.12442C>T MANE Select	ENSP00000482968.1:p.Arg4148Ter
NM_015120.4:c.12445C>T , LRG_741t1:c.12445C>T	NP_055935.4:p.Arg4149Ter
ENST00000484298.5:c.12316C>T	ENSP00000478155.1:p.Arg4106Ter
ENST00000490821.1:n.86C>T
ENST00000613296.4:c.12442C>T	ENSP00000482968.1:p.Arg4148Ter
ENST00000651057.1:c.2596C>T	ENSP00000498504.1:p.Arg866Ter
ENST00000651434.1:c.3798C>T
ENST00000651750.1:c.1588C>T
ENST00000652487.1:c.3613C>T
ENST00000682565.1:c.12139C>T	ENSP00000507671.1:n.12139C>T
ENST00000682801.1:c.11494C>T	ENSP00000507862.1:p.Arg3832Ter
ENST00000682859.1:c.12061C>T	ENSP00000508222.1:p.Arg4021Ter
ENST00000683108.1:n.184C>T
ENST00000683147.1:n.3521C>T
ENST00000683791.1:c.5147C>T
ENST00000684460.1:c.9342C>T
ENST00000684548.1:c.12061C>T	ENSP00000507421.1:p.Arg4021Ter
ENST00000684590.1:c.6508C>T	ENSP00000507376.1:p.Arg2170Ter
ENST00000684656.1:c.9526C>T