Canonical Allele Identifier: CA427001397

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717370A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490243A>C , CM000664.2:g.73490243A>C	GRCh38
NC_000002.11:g.73717370A>C , CM000664.1:g.73717370A>C	GRCh37
NC_000002.10:g.73570878A>C	NCBI36
NG_011690.1:g.109491A>C , LRG_741:g.109491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7903A>C	ENSP00000507671.1:p.Arg2635=
ENST00000682801.1:c.7903A>C	ENSP00000507862.1:p.Arg2635=
ENST00000682859.1:c.7903A>C	ENSP00000508222.1:p.Arg2635=
ENST00000683791.1:c.1295A>C
ENST00000684460.1:c.5355A>C
ENST00000684548.1:c.7903A>C	ENSP00000507421.1:p.Arg2635=
ENST00000684590.1:c.2350A>C	ENSP00000507376.1:p.Arg784=
ENST00000684656.1:c.5355A>C
ENST00000613296.6:c.8284A>C MANE Select	ENSP00000482968.1:p.Arg2762=
ENST00000651434.1:c.896-29532A>C
ENST00000423048.5:c.3030+85A>C	ENSP00000399833.1:n.3030+85A>C
ENST00000484298.5:c.8158A>C	ENSP00000478155.1:p.Arg2720=
ENST00000613296.4:c.8284A>C	ENSP00000482968.1:p.Arg2762=
ENST00000614410.4:c.8284A>C	ENSP00000479094.1:p.Arg2762=
ENST00000620466.4:n.2087A>C
NM_015120.4:c.8287A>C , LRG_741t1:c.8287A>C	NP_055935.4:p.Arg2763=
NM_001378454.1:c.8284A>C MANE Select	NP_001365383.1:p.Arg2762=