Canonical Allele Identifier: CA10616150

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 337020
• ClinVar RCV Id: RCV000358463 ; RCV003910302
• dbSNP Id: rs886056308
• MyVariant Identifiers: chr2:g.73679793T>A (hg19) ; chr2:g.73452666T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452666T>A , CM000664.2:g.73452666T>A	GRCh38
NC_000002.11:g.73679793T>A , CM000664.1:g.73679793T>A	GRCh37
NC_000002.10:g.73533301T>A	NCBI36
NG_011690.1:g.71914T>A , LRG_741:g.71914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.5758T>A	ENSP00000507671.1:p.Ser1920Thr
ENST00000682801.1:c.5758T>A	ENSP00000507862.1:p.Ser1920Thr
ENST00000682859.1:c.5758T>A	ENSP00000508222.1:p.Ser1920Thr
ENST00000683791.1:c.685+20375T>A
ENST00000684197.1:n.1108T>A
ENST00000684460.1:c.3210T>A
ENST00000684548.1:c.5758T>A	ENSP00000507421.1:p.Ser1920Thr
ENST00000684590.1:c.256T>A	ENSP00000507376.1:p.Ser86Thr
ENST00000684656.1:c.3210T>A
ENST00000613296.6:c.6139T>A MANE Select	ENSP00000482968.1:p.Ser2047Thr
ENST00000423048.5:c.970T>A	ENSP00000399833.1:p.Ser324Thr
ENST00000484298.5:c.6013T>A	ENSP00000478155.1:p.Ser2005Thr
ENST00000613296.4:c.6139T>A	ENSP00000482968.1:p.Ser2047Thr
ENST00000614410.4:c.6139T>A	ENSP00000479094.1:p.Ser2047Thr
NM_015120.4:c.6142T>A , LRG_741t1:c.6142T>A	NP_055935.4:p.Ser2048Thr
NM_001378454.1:c.6139T>A MANE Select	NP_001365383.1:p.Ser2047Thr