Canonical Allele Identifier: CA1715088

Gene: ALMS1

Linked Data

• dbSNP Id: rs766717499
• ExAC: 2:73799909 T / C
• gnomAD v2: 2-73799909-T-C
• gnomAD v4: 2-73572782-T-C
• MyVariant Identifiers: chr2:g.73799909T>C (hg19) ; chr2:g.73572782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572782T>C , CM000664.2:g.73572782T>C	GRCh38
NC_000002.11:g.73799909T>C , CM000664.1:g.73799909T>C	GRCh37
NC_000002.10:g.73653417T>C	NCBI36
NG_011690.1:g.192030T>C , LRG_741:g.192030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10524T>C	ENSP00000507671.1:p.Ile3508=
ENST00000682801.1:c.10524T>C	ENSP00000507862.1:p.Ile3508=
ENST00000682859.1:c.10524T>C	ENSP00000508222.1:p.Ile3508=
ENST00000683791.1:c.3610T>C
ENST00000684460.1:c.7805T>C
ENST00000684548.1:c.10524T>C	ENSP00000507421.1:p.Ile3508=
ENST00000684590.1:c.4971T>C	ENSP00000507376.1:p.Ile1657=
ENST00000684656.1:c.7850T>C
ENST00000613296.6:c.10905T>C MANE Select	ENSP00000482968.1:p.Ile3635=
ENST00000651057.1:c.1059T>C	ENSP00000498504.1:p.Ile353=
ENST00000651434.1:c.2261T>C
ENST00000651750.1:c.293T>C
ENST00000652487.1:c.2002T>C
ENST00000423048.5:c.4396T>C	ENSP00000399833.1:n.4396T>C
ENST00000484298.5:c.10779T>C	ENSP00000478155.1:p.Ile3593=
ENST00000613296.4:c.10905T>C	ENSP00000482968.1:p.Ile3635=
ENST00000614410.4:c.10905T>C	ENSP00000479094.1:p.Ile3635=
ENST00000620466.4:n.4708T>C
NM_015120.4:c.10908T>C , LRG_741t1:c.10908T>C	NP_055935.4:p.Ile3636=
NM_001378454.1:c.10905T>C MANE Select	NP_001365383.1:p.Ile3635=