Canonical Allele Identifier: CA1261021021

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572383A= , CM000664.2:g.73572383A=	GRCh38
NC_000002.11:g.73799510A= , CM000664.1:g.73799510A=	GRCh37
NC_000002.10:g.73653018A=	NCBI36
NG_011690.1:g.191631A= , LRG_741:g.191631A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10125A=	ENSP00000507671.1:p.Gly3375=
ENST00000682801.1:c.10125A=	ENSP00000507862.1:p.Gly3375=
ENST00000682859.1:c.10125A=	ENSP00000508222.1:p.Gly3375=
ENST00000683791.1:c.3211A=
ENST00000684460.1:c.7406A=
ENST00000684548.1:c.10125A=	ENSP00000507421.1:p.Gly3375=
ENST00000684590.1:c.4572A=	ENSP00000507376.1:p.Gly1524=
ENST00000684656.1:c.7451A=
ENST00000613296.6:c.10506A= MANE Select	ENSP00000482968.1:p.Gly3502=
ENST00000651057.1:c.660A=	ENSP00000498504.1:p.Gly220=
ENST00000651434.1:c.1862A=
ENST00000652487.1:c.1603A=
ENST00000423048.5:c.3997A=	ENSP00000399833.1:n.3997A=
ENST00000484298.5:c.10380A=	ENSP00000478155.1:p.Gly3460=
ENST00000613296.4:c.10506A=	ENSP00000482968.1:p.Gly3502=
ENST00000614410.4:c.10506A=	ENSP00000479094.1:p.Gly3502=
ENST00000620466.4:n.4309A=
NM_015120.4:c.10509A= , LRG_741t1:c.10509A=	NP_055935.4:p.Gly3503=
NM_001378454.1:c.10506A= MANE Select	NP_001365383.1:p.Gly3502=