Canonical Allele Identifier: CA347274794

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608509A>T , CM000664.2:g.73608509A>T	GRCh38
NC_000002.11:g.73835636A>T , CM000664.1:g.73835636A>T	GRCh37
NC_000002.10:g.73689144A>T	NCBI36
NG_011690.1:g.227757A>T , LRG_741:g.227757A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12397A>T MANE Select	NP_001365383.1:p.Arg4133Ter
ENST00000613296.6:c.12397A>T MANE Select	ENSP00000482968.1:p.Arg4133Ter
NM_015120.4:c.12400A>T , LRG_741t1:c.12400A>T	NP_055935.4:p.Arg4134Ter
ENST00000464408.3:n.633A>T
ENST00000484298.5:c.12271A>T	ENSP00000478155.1:p.Arg4091Ter
ENST00000490821.1:n.41A>T
ENST00000613296.4:c.12397A>T	ENSP00000482968.1:p.Arg4133Ter
ENST00000651057.1:c.2551A>T	ENSP00000498504.1:p.Arg851Ter
ENST00000651434.1:c.3753A>T
ENST00000651750.1:c.1543A>T
ENST00000652487.1:c.3568A>T
ENST00000682565.1:c.12094A>T	ENSP00000507671.1:n.12094A>T
ENST00000682801.1:c.11449A>T	ENSP00000507862.1:p.Arg3817Ter
ENST00000682859.1:c.12016A>T	ENSP00000508222.1:p.Arg4006Ter
ENST00000683108.1:n.139A>T
ENST00000683147.1:n.3476A>T
ENST00000683791.1:c.5102A>T
ENST00000684460.1:c.9297A>T
ENST00000684548.1:c.12016A>T	ENSP00000507421.1:p.Arg4006Ter
ENST00000684590.1:c.6463A>T	ENSP00000507376.1:p.Arg2155Ter
ENST00000684656.1:c.9481A>T