Canonical Allele Identifier: CA347266432

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601338-T-A
• MyVariant Identifiers: chr2:g.73828465T>A (hg19) ; chr2:g.73601338T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601338T>A , CM000664.2:g.73601338T>A	GRCh38
NC_000002.11:g.73828465T>A , CM000664.1:g.73828465T>A	GRCh37
NC_000002.10:g.73681973T>A	NCBI36
NG_011690.1:g.220586T>A , LRG_741:g.220586T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11635T>A	ENSP00000507671.1:p.Cys3879Ser
ENST00000682801.1:c.11167-847T>A	ENSP00000507862.1:n.11167-847T>A
ENST00000682859.1:c.11635T>A	ENSP00000508222.1:p.Cys3879Ser
ENST00000683791.1:c.4721T>A
ENST00000684460.1:c.8916T>A
ENST00000684548.1:c.11635T>A	ENSP00000507421.1:p.Cys3879Ser
ENST00000684590.1:c.6082T>A	ENSP00000507376.1:p.Cys2028Ser
ENST00000684656.1:c.9100T>A
ENST00000613296.6:c.12016T>A MANE Select	ENSP00000482968.1:p.Cys4006Ser
ENST00000651057.1:c.2170T>A	ENSP00000498504.1:p.Cys724Ser
ENST00000651434.1:c.3372T>A
ENST00000651750.1:c.1260+457T>A
ENST00000652487.1:c.3187T>A
ENST00000464408.3:n.191T>A
ENST00000484298.5:c.11890T>A	ENSP00000478155.1:p.Cys3964Ser
ENST00000613296.4:c.12016T>A	ENSP00000482968.1:p.Cys4006Ser
ENST00000620466.4:n.5819T>A
NM_015120.4:c.12019T>A , LRG_741t1:c.12019T>A	NP_055935.4:p.Cys4007Ser
NM_001378454.1:c.12016T>A MANE Select	NP_001365383.1:p.Cys4006Ser