Canonical Allele Identifier: CA1261021235

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572489A= , CM000664.2:g.73572489A=	GRCh38
NC_000002.11:g.73799616A= , CM000664.1:g.73799616A=	GRCh37
NC_000002.10:g.73653124A=	NCBI36
NG_011690.1:g.191737A= , LRG_741:g.191737A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10231A=	ENSP00000507671.1:p.Thr3411=
ENST00000682801.1:c.10231A=	ENSP00000507862.1:p.Thr3411=
ENST00000682859.1:c.10231A=	ENSP00000508222.1:p.Thr3411=
ENST00000683791.1:c.3317A=
ENST00000684460.1:c.7512A=
ENST00000684548.1:c.10231A=	ENSP00000507421.1:p.Thr3411=
ENST00000684590.1:c.4678A=	ENSP00000507376.1:p.Thr1560=
ENST00000684656.1:c.7557A=
ENST00000613296.6:c.10612A= MANE Select	ENSP00000482968.1:p.Thr3538=
ENST00000651057.1:c.766A=	ENSP00000498504.1:p.Thr256=
ENST00000651434.1:c.1968A=
ENST00000652487.1:c.1709A=
ENST00000423048.5:c.4103A=	ENSP00000399833.1:n.4103A=
ENST00000484298.5:c.10486A=	ENSP00000478155.1:p.Thr3496=
ENST00000613296.4:c.10612A=	ENSP00000482968.1:p.Thr3538=
ENST00000614410.4:c.10612A=	ENSP00000479094.1:p.Thr3538=
ENST00000620466.4:n.4415A=
NM_015120.4:c.10615A= , LRG_741t1:c.10615A=	NP_055935.4:p.Thr3539=
NM_001378454.1:c.10612A= MANE Select	NP_001365383.1:p.Thr3538=