Canonical Allele Identifier: CA1715427

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2058106
• ClinVar RCV Id: RCV002942165
• dbSNP Id: rs767174517
• ExAC: 2:73828557 C / T
• gnomAD v2: 2-73828557-C-T
• gnomAD v4: 2-73601430-C-T
• MyVariant Identifiers: chr2:g.73828557C>T (hg19) ; chr2:g.73601430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601430C>T , CM000664.2:g.73601430C>T	GRCh38
NC_000002.11:g.73828557C>T , CM000664.1:g.73828557C>T	GRCh37
NC_000002.10:g.73682065C>T	NCBI36
NG_011690.1:g.220678C>T , LRG_741:g.220678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11727C>T	ENSP00000507671.1:p.Thr3909=
ENST00000682801.1:c.11167-755C>T	ENSP00000507862.1:n.11167-755C>T
ENST00000682859.1:c.11727C>T	ENSP00000508222.1:p.Thr3909=
ENST00000683791.1:c.4813C>T
ENST00000684460.1:c.9008C>T
ENST00000684548.1:c.11727C>T	ENSP00000507421.1:p.Thr3909=
ENST00000684590.1:c.6174C>T	ENSP00000507376.1:p.Thr2058=
ENST00000684656.1:c.9192C>T
ENST00000613296.6:c.12108C>T MANE Select	ENSP00000482968.1:p.Thr4036=
ENST00000651057.1:c.2262C>T	ENSP00000498504.1:p.Thr754=
ENST00000651434.1:c.3464C>T
ENST00000651750.1:c.1260+549C>T
ENST00000652487.1:c.3279C>T
ENST00000464408.3:n.283C>T
ENST00000484298.5:c.11982C>T	ENSP00000478155.1:p.Thr3994=
ENST00000613296.4:c.12108C>T	ENSP00000482968.1:p.Thr4036=
ENST00000620466.4:n.5911C>T
NM_015120.4:c.12111C>T , LRG_741t1:c.12111C>T	NP_055935.4:p.Thr4037=
NM_001378454.1:c.12108C>T MANE Select	NP_001365383.1:p.Thr4036=