Canonical Allele Identifier: CA1715405

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 701925
• ClinVar RCV Id: RCV000870687 ; RCV002346002
• dbSNP Id: rs370981817
• ExAC: 2:73828485 C / T
• gnomAD v2: 2-73828485-C-T
• gnomAD v3: 2-73601358-C-T
• gnomAD v4: 2-73601358-C-T
• MyVariant Identifiers: chr2:g.73828485C>T (hg19) ; chr2:g.73601358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601358C>T , CM000664.2:g.73601358C>T	GRCh38
NC_000002.11:g.73828485C>T , CM000664.1:g.73828485C>T	GRCh37
NC_000002.10:g.73681993C>T	NCBI36
NG_011690.1:g.220606C>T , LRG_741:g.220606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11655C>T	ENSP00000507671.1:p.Asp3885=
ENST00000682801.1:c.11167-827C>T	ENSP00000507862.1:n.11167-827C>T
ENST00000682859.1:c.11655C>T	ENSP00000508222.1:p.Asp3885=
ENST00000683791.1:c.4741C>T
ENST00000684460.1:c.8936C>T
ENST00000684548.1:c.11655C>T	ENSP00000507421.1:p.Asp3885=
ENST00000684590.1:c.6102C>T	ENSP00000507376.1:p.Asp2034=
ENST00000684656.1:c.9120C>T
ENST00000613296.6:c.12036C>T MANE Select	ENSP00000482968.1:p.Asp4012=
ENST00000651057.1:c.2190C>T	ENSP00000498504.1:p.Asp730=
ENST00000651434.1:c.3392C>T
ENST00000651750.1:c.1260+477C>T
ENST00000652487.1:c.3207C>T
ENST00000464408.3:n.211C>T
ENST00000484298.5:c.11910C>T	ENSP00000478155.1:p.Asp3970=
ENST00000613296.4:c.12036C>T	ENSP00000482968.1:p.Asp4012=
ENST00000620466.4:n.5839C>T
NM_015120.4:c.12039C>T , LRG_741t1:c.12039C>T	NP_055935.4:p.Asp4013=
NM_001378454.1:c.12036C>T MANE Select	NP_001365383.1:p.Asp4012=