Canonical Allele Identifier: CA1261021119

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572421T= , CM000664.2:g.73572421T=	GRCh38
NC_000002.11:g.73799548T= , CM000664.1:g.73799548T=	GRCh37
NC_000002.10:g.73653056T=	NCBI36
NG_011690.1:g.191669T= , LRG_741:g.191669T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10163T=	ENSP00000507671.1:p.Phe3388=
ENST00000682801.1:c.10163T=	ENSP00000507862.1:p.Phe3388=
ENST00000682859.1:c.10163T=	ENSP00000508222.1:p.Phe3388=
ENST00000683791.1:c.3249T=
ENST00000684460.1:c.7444T=
ENST00000684548.1:c.10163T=	ENSP00000507421.1:p.Phe3388=
ENST00000684590.1:c.4610T=	ENSP00000507376.1:p.Phe1537=
ENST00000684656.1:c.7489T=
ENST00000613296.6:c.10544T= MANE Select	ENSP00000482968.1:p.Phe3515=
ENST00000651057.1:c.698T=	ENSP00000498504.1:p.Phe233=
ENST00000651434.1:c.1900T=
ENST00000652487.1:c.1641T=
ENST00000423048.5:c.4035T=	ENSP00000399833.1:n.4035T=
ENST00000484298.5:c.10418T=	ENSP00000478155.1:p.Phe3473=
ENST00000613296.4:c.10544T=	ENSP00000482968.1:p.Phe3515=
ENST00000614410.4:c.10544T=	ENSP00000479094.1:p.Phe3515=
ENST00000620466.4:n.4347T=
NM_015120.4:c.10547T= , LRG_741t1:c.10547T=	NP_055935.4:p.Phe3516=
NM_001378454.1:c.10544T= MANE Select	NP_001365383.1:p.Phe3515=