Canonical Allele Identifier: CA1715007

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 554755
• ClinVar RCV Id: RCV000670439 ; RCV002397353
• dbSNP Id: rs202036843
• ExAC: 2:73799465 C / T
• gnomAD v2: 2-73799465-C-T
• gnomAD v3: 2-73572338-C-T
• gnomAD v4: 2-73572338-C-T
• MyVariant Identifiers: chr2:g.73799465C>T (hg19) ; chr2:g.73572338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572338C>T , CM000664.2:g.73572338C>T	GRCh38
NC_000002.11:g.73799465C>T , CM000664.1:g.73799465C>T	GRCh37
NC_000002.10:g.73652973C>T	NCBI36
NG_011690.1:g.191586C>T , LRG_741:g.191586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10080C>T	ENSP00000507671.1:p.Pro3360=
ENST00000682801.1:c.10080C>T	ENSP00000507862.1:p.Pro3360=
ENST00000682859.1:c.10080C>T	ENSP00000508222.1:p.Pro3360=
ENST00000683791.1:c.3166C>T
ENST00000684460.1:c.7361C>T
ENST00000684548.1:c.10080C>T	ENSP00000507421.1:p.Pro3360=
ENST00000684590.1:c.4527C>T	ENSP00000507376.1:p.Pro1509=
ENST00000684656.1:c.7406C>T
ENST00000613296.6:c.10461C>T MANE Select	ENSP00000482968.1:p.Pro3487=
ENST00000651057.1:c.615C>T	ENSP00000498504.1:p.Pro205=
ENST00000651434.1:c.1817C>T
ENST00000652487.1:c.1558C>T
ENST00000423048.5:c.3952C>T	ENSP00000399833.1:n.3952C>T
ENST00000484298.5:c.10335C>T	ENSP00000478155.1:p.Pro3445=
ENST00000613296.4:c.10461C>T	ENSP00000482968.1:p.Pro3487=
ENST00000614410.4:c.10461C>T	ENSP00000479094.1:p.Pro3487=
ENST00000620466.4:n.4264C>T
NM_015120.4:c.10464C>T , LRG_741t1:c.10464C>T	NP_055935.4:p.Pro3488=
NM_001378454.1:c.10461C>T MANE Select	NP_001365383.1:p.Pro3487=