Canonical Allele Identifier: CA347266152

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828430C>A (hg19) ; chr2:g.73601303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601303C>A , CM000664.2:g.73601303C>A	GRCh38
NC_000002.11:g.73828430C>A , CM000664.1:g.73828430C>A	GRCh37
NC_000002.10:g.73681938C>A	NCBI36
NG_011690.1:g.220551C>A , LRG_741:g.220551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11600C>A	ENSP00000507671.1:p.Thr3867Asn
ENST00000682801.1:c.11167-882C>A	ENSP00000507862.1:n.11167-882C>A
ENST00000682859.1:c.11600C>A	ENSP00000508222.1:p.Thr3867Asn
ENST00000683791.1:c.4686C>A
ENST00000684460.1:c.8881C>A
ENST00000684548.1:c.11600C>A	ENSP00000507421.1:p.Thr3867Asn
ENST00000684590.1:c.6047C>A	ENSP00000507376.1:p.Thr2016Asn
ENST00000684656.1:c.9065C>A
ENST00000613296.6:c.11981C>A MANE Select	ENSP00000482968.1:p.Thr3994Asn
ENST00000651057.1:c.2135C>A	ENSP00000498504.1:p.Thr712Asn
ENST00000651434.1:c.3337C>A
ENST00000651750.1:c.1260+422C>A
ENST00000652487.1:c.3152C>A
ENST00000464408.3:n.156C>A
ENST00000484298.5:c.11855C>A	ENSP00000478155.1:p.Thr3952Asn
ENST00000613296.4:c.11981C>A	ENSP00000482968.1:p.Thr3994Asn
ENST00000620466.4:n.5784C>A
NM_015120.4:c.11984C>A , LRG_741t1:c.11984C>A	NP_055935.4:p.Thr3995Asn
NM_001378454.1:c.11981C>A MANE Select	NP_001365383.1:p.Thr3994Asn