Canonical Allele Identifier: CA1713175

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 449942
• ClinVar RCV Id: RCV000523025 ; RCV000798208 ; RCV001707718 ; RCV002395252
• dbSNP Id: rs374663067
• ExAC: 2:73675108 G / A
• gnomAD v2: 2-73675108-G-A
• gnomAD v3: 2-73447978-G-A
• gnomAD v4: 2-73447978-G-A
• MyVariant Identifiers: chr2:g.73675108G>A (hg19) ; chr2:g.73447978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73447978G>A , CM000664.2:g.73447978G>A	GRCh38
NC_000002.11:g.73675108G>A , CM000664.1:g.73675108G>A	GRCh37
NC_000002.10:g.73528616G>A	NCBI36
NG_011690.1:g.67226G>A , LRG_741:g.67226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.1070G>A	ENSP00000507671.1:p.Gly357Asp
ENST00000682801.1:c.1070G>A	ENSP00000507862.1:p.Gly357Asp
ENST00000682859.1:c.1070G>A	ENSP00000508222.1:p.Gly357Asp
ENST00000683791.1:c.685+15687G>A
ENST00000684548.1:c.1070G>A	ENSP00000507421.1:p.Gly357Asp
ENST00000613296.6:c.1451G>A MANE Select	ENSP00000482968.1:p.Gly484Asp
ENST00000484298.5:c.1325G>A	ENSP00000478155.1:p.Gly442Asp
ENST00000613296.4:c.1451G>A	ENSP00000482968.1:p.Gly484Asp
ENST00000614410.4:c.1451G>A	ENSP00000479094.1:p.Gly484Asp
NM_015120.4:c.1454G>A , LRG_741t1:c.1454G>A	NP_055935.4:p.Gly485Asp
NM_001378454.1:c.1451G>A MANE Select	NP_001365383.1:p.Gly484Asp