Canonical Allele Identifier: CA352426

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 224801
• ClinVar RCV Id: RCV000210366 ; RCV001818509 ; RCV002433919
• dbSNP Id: rs539612316
• ExAC: 2:73676473 T / A
• gnomAD v2: 2-73676473-T-A
• gnomAD v3: 2-73449346-T-A
• gnomAD v4: 2-73449346-T-A
• MyVariant Identifiers: chr2:g.73676473T>A (hg19) ; chr2:g.73449346T>A (hg38)
• PubMed: PMID:27665122

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73449346T>A , CM000664.2:g.73449346T>A	GRCh38
NC_000002.11:g.73676473T>A , CM000664.1:g.73676473T>A	GRCh37
NC_000002.10:g.73529981T>A	NCBI36
NG_011690.1:g.68594T>A , LRG_741:g.68594T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.2438T>A	ENSP00000507671.1:p.Leu813Ter
ENST00000682801.1:c.2438T>A	ENSP00000507862.1:p.Leu813Ter
ENST00000682859.1:c.2438T>A	ENSP00000508222.1:p.Leu813Ter
ENST00000683791.1:c.685+17055T>A
ENST00000684548.1:c.2438T>A	ENSP00000507421.1:p.Leu813Ter
ENST00000613296.6:c.2819T>A MANE Select	ENSP00000482968.1:p.Leu940Ter
ENST00000484298.5:c.2693T>A	ENSP00000478155.1:p.Leu898Ter
ENST00000613296.4:c.2819T>A	ENSP00000482968.1:p.Leu940Ter
ENST00000614410.4:c.2819T>A	ENSP00000479094.1:p.Leu940Ter
NM_015120.4:c.2822T>A , LRG_741t1:c.2822T>A	NP_055935.4:p.Leu941Ter
NM_001378454.1:c.2819T>A MANE Select	NP_001365383.1:p.Leu940Ter