Canonical Allele Identifier: CA1261021944

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572798A= , CM000664.2:g.73572798A=	GRCh38
NC_000002.11:g.73799925A= , CM000664.1:g.73799925A=	GRCh37
NC_000002.10:g.73653433A=	NCBI36
NG_011690.1:g.192046A= , LRG_741:g.192046A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10540A=	ENSP00000507671.1:p.Thr3514=
ENST00000682801.1:c.10540A=	ENSP00000507862.1:p.Thr3514=
ENST00000682859.1:c.10540A=	ENSP00000508222.1:p.Thr3514=
ENST00000683791.1:c.3626A=
ENST00000684460.1:c.7821A=
ENST00000684548.1:c.10540A=	ENSP00000507421.1:p.Thr3514=
ENST00000684590.1:c.4987A=	ENSP00000507376.1:p.Thr1663=
ENST00000684656.1:c.7866A=
ENST00000613296.6:c.10921A= MANE Select	ENSP00000482968.1:p.Thr3641=
ENST00000651057.1:c.1075A=	ENSP00000498504.1:p.Thr359=
ENST00000651434.1:c.2277A=
ENST00000651750.1:c.309A=
ENST00000652487.1:c.2018A=
ENST00000423048.5:c.4412A=	ENSP00000399833.1:n.4412A=
ENST00000484298.5:c.10795A=	ENSP00000478155.1:p.Thr3599=
ENST00000613296.4:c.10921A=	ENSP00000482968.1:p.Thr3641=
ENST00000614410.4:c.10921A=	ENSP00000479094.1:p.Thr3641=
ENST00000620466.4:n.4724A=
NM_015120.4:c.10924A= , LRG_741t1:c.10924A=	NP_055935.4:p.Thr3642=
NM_001378454.1:c.10921A= MANE Select	NP_001365383.1:p.Thr3641=