Canonical Allele Identifier: CA1261022088

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572883A= , CM000664.2:g.73572883A=	GRCh38
NC_000002.11:g.73800010A= , CM000664.1:g.73800010A=	GRCh37
NC_000002.10:g.73653518A=	NCBI36
NG_011690.1:g.192131A= , LRG_741:g.192131A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10625A=	ENSP00000507671.1:p.Gln3542=
ENST00000682801.1:c.10625A=	ENSP00000507862.1:p.Gln3542=
ENST00000682859.1:c.10625A=	ENSP00000508222.1:p.Gln3542=
ENST00000683791.1:c.3711A=
ENST00000684460.1:c.7906A=
ENST00000684548.1:c.10625A=	ENSP00000507421.1:p.Gln3542=
ENST00000684590.1:c.5072A=	ENSP00000507376.1:p.Gln1691=
ENST00000684656.1:c.7951A=
ENST00000613296.6:c.11006A= MANE Select	ENSP00000482968.1:p.Gln3669=
ENST00000651057.1:c.1160A=	ENSP00000498504.1:p.Gln387=
ENST00000651434.1:c.2362A=
ENST00000651750.1:c.394A=
ENST00000652487.1:c.2103A=
ENST00000423048.5:c.4497A=	ENSP00000399833.1:n.4497A=
ENST00000484298.5:c.10880A=	ENSP00000478155.1:p.Gln3627=
ENST00000613296.4:c.11006A=	ENSP00000482968.1:p.Gln3669=
ENST00000614410.4:c.11006A=	ENSP00000479094.1:p.Gln3669=
ENST00000620466.4:n.4809A=
NM_015120.4:c.11009A= , LRG_741t1:c.11009A=	NP_055935.4:p.Gln3670=
NM_001378454.1:c.11006A= MANE Select	NP_001365383.1:p.Gln3669=