Canonical Allele Identifier: CA347277148

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450479G>T , CM000664.2:g.73450479G>T	GRCh38
NC_000002.11:g.73677606G>T , CM000664.1:g.73677606G>T	GRCh37
NC_000002.10:g.73531114G>T	NCBI36
NG_011690.1:g.69727G>T , LRG_741:g.69727G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.3952G>T MANE Select	NP_001365383.1:p.Gly1318Ter
ENST00000613296.6:c.3952G>T MANE Select	ENSP00000482968.1:p.Gly1318Ter
NM_015120.4:c.3955G>T , LRG_741t1:c.3955G>T	NP_055935.4:p.Gly1319Ter
ENST00000484298.5:c.3826G>T	ENSP00000478155.1:p.Gly1276Ter
ENST00000613296.4:c.3952G>T	ENSP00000482968.1:p.Gly1318Ter
ENST00000614410.4:c.3952G>T	ENSP00000479094.1:p.Gly1318Ter
ENST00000682565.1:c.3571G>T	ENSP00000507671.1:p.Gly1191Ter
ENST00000682801.1:c.3571G>T	ENSP00000507862.1:p.Gly1191Ter
ENST00000682859.1:c.3571G>T	ENSP00000508222.1:p.Gly1191Ter
ENST00000683791.1:c.685+18188G>T
ENST00000684460.1:c.1023G>T
ENST00000684548.1:c.3571G>T	ENSP00000507421.1:p.Gly1191Ter
ENST00000684656.1:c.1023G>T