Canonical Allele Identifier: CA347265422

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828334T>A (hg19) ; chr2:g.73601207T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601207T>A , CM000664.2:g.73601207T>A	GRCh38
NC_000002.11:g.73828334T>A , CM000664.1:g.73828334T>A	GRCh37
NC_000002.10:g.73681842T>A	NCBI36
NG_011690.1:g.220455T>A , LRG_741:g.220455T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11504T>A	ENSP00000507671.1:p.Phe3835Tyr
ENST00000682801.1:c.11167-978T>A	ENSP00000507862.1:n.11167-978T>A
ENST00000682859.1:c.11504T>A	ENSP00000508222.1:p.Phe3835Tyr
ENST00000683791.1:c.4590T>A
ENST00000684460.1:c.8785T>A
ENST00000684548.1:c.11504T>A	ENSP00000507421.1:p.Phe3835Tyr
ENST00000684590.1:c.5951T>A	ENSP00000507376.1:p.Phe1984Tyr
ENST00000684656.1:c.8969T>A
ENST00000613296.6:c.11885T>A MANE Select	ENSP00000482968.1:p.Phe3962Tyr
ENST00000651057.1:c.2039T>A	ENSP00000498504.1:p.Phe680Tyr
ENST00000651434.1:c.3241T>A
ENST00000651750.1:c.1260+326T>A
ENST00000652487.1:c.3056T>A
ENST00000464408.3:n.60T>A
ENST00000484298.5:c.11759T>A	ENSP00000478155.1:p.Phe3920Tyr
ENST00000613296.4:c.11885T>A	ENSP00000482968.1:p.Phe3962Tyr
ENST00000620466.4:n.5688T>A
NM_015120.4:c.11888T>A , LRG_741t1:c.11888T>A	NP_055935.4:p.Phe3963Tyr
NM_001378454.1:c.11885T>A MANE Select	NP_001365383.1:p.Phe3962Tyr