Canonical Allele Identifier: CA426783826

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828560T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601433T>C , CM000664.2:g.73601433T>C	GRCh38
NC_000002.11:g.73828560T>C , CM000664.1:g.73828560T>C	GRCh37
NC_000002.10:g.73682068T>C	NCBI36
NG_011690.1:g.220681T>C , LRG_741:g.220681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11730T>C	ENSP00000507671.1:p.Leu3910=
ENST00000682801.1:c.11167-752T>C	ENSP00000507862.1:n.11167-752T>C
ENST00000682859.1:c.11730T>C	ENSP00000508222.1:p.Leu3910=
ENST00000683791.1:c.4816T>C
ENST00000684460.1:c.9011T>C
ENST00000684548.1:c.11730T>C	ENSP00000507421.1:p.Leu3910=
ENST00000684590.1:c.6177T>C	ENSP00000507376.1:p.Leu2059=
ENST00000684656.1:c.9195T>C
ENST00000613296.6:c.12111T>C MANE Select	ENSP00000482968.1:p.Leu4037=
ENST00000651057.1:c.2265T>C	ENSP00000498504.1:p.Leu755=
ENST00000651434.1:c.3467T>C
ENST00000651750.1:c.1260+552T>C
ENST00000652487.1:c.3282T>C
ENST00000464408.3:n.286T>C
ENST00000484298.5:c.11985T>C	ENSP00000478155.1:p.Leu3995=
ENST00000613296.4:c.12111T>C	ENSP00000482968.1:p.Leu4037=
ENST00000620466.4:n.5914T>C
NM_015120.4:c.12114T>C , LRG_741t1:c.12114T>C	NP_055935.4:p.Leu4038=
NM_001378454.1:c.12111T>C MANE Select	NP_001365383.1:p.Leu4037=