Canonical Allele Identifier: CA1261021328

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572582G= , CM000664.2:g.73572582G=	GRCh38
NC_000002.11:g.73799709G= , CM000664.1:g.73799709G=	GRCh37
NC_000002.10:g.73653217G=	NCBI36
NG_011690.1:g.191830G= , LRG_741:g.191830G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10324G=	ENSP00000507671.1:p.Asp3442=
ENST00000682801.1:c.10324G=	ENSP00000507862.1:p.Asp3442=
ENST00000682859.1:c.10324G=	ENSP00000508222.1:p.Asp3442=
ENST00000683791.1:c.3410G=
ENST00000684460.1:c.7605G=
ENST00000684548.1:c.10324G=	ENSP00000507421.1:p.Asp3442=
ENST00000684590.1:c.4771G=	ENSP00000507376.1:p.Asp1591=
ENST00000684656.1:c.7650G=
ENST00000613296.6:c.10705G= MANE Select	ENSP00000482968.1:p.Asp3569=
ENST00000651057.1:c.859G=	ENSP00000498504.1:p.Asp287=
ENST00000651434.1:c.2061G=
ENST00000651750.1:c.93G=
ENST00000652487.1:c.1802G=
ENST00000423048.5:c.4196G=	ENSP00000399833.1:n.4196G=
ENST00000484298.5:c.10579G=	ENSP00000478155.1:p.Asp3527=
ENST00000613296.4:c.10705G=	ENSP00000482968.1:p.Asp3569=
ENST00000614410.4:c.10705G=	ENSP00000479094.1:p.Asp3569=
ENST00000620466.4:n.4508G=
NM_015120.4:c.10708G= , LRG_741t1:c.10708G=	NP_055935.4:p.Asp3570=
NM_001378454.1:c.10705G= MANE Select	NP_001365383.1:p.Asp3569=