Canonical Allele Identifier: CA1715412

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2182513
• ClinVar RCV Id: RCV002592050
• dbSNP Id: rs80139515
• ExAC: 2:73828496 A / G
• gnomAD v2: 2-73828496-A-G
• MyVariant Identifiers: chr2:g.73828496A>G (hg19) ; chr2:g.73601369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601369A>G , CM000664.2:g.73601369A>G	GRCh38
NC_000002.11:g.73828496A>G , CM000664.1:g.73828496A>G	GRCh37
NC_000002.10:g.73682004A>G	NCBI36
NG_011690.1:g.220617A>G , LRG_741:g.220617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11666A>G	ENSP00000507671.1:p.Tyr3889Cys
ENST00000682801.1:c.11167-816A>G	ENSP00000507862.1:n.11167-816A>G
ENST00000682859.1:c.11666A>G	ENSP00000508222.1:p.Tyr3889Cys
ENST00000683791.1:c.4752A>G
ENST00000684460.1:c.8947A>G
ENST00000684548.1:c.11666A>G	ENSP00000507421.1:p.Tyr3889Cys
ENST00000684590.1:c.6113A>G	ENSP00000507376.1:p.Tyr2038Cys
ENST00000684656.1:c.9131A>G
ENST00000613296.6:c.12047A>G MANE Select	ENSP00000482968.1:p.Tyr4016Cys
ENST00000651057.1:c.2201A>G	ENSP00000498504.1:p.Tyr734Cys
ENST00000651434.1:c.3403A>G
ENST00000651750.1:c.1260+488A>G
ENST00000652487.1:c.3218A>G
ENST00000464408.3:n.222A>G
ENST00000484298.5:c.11921A>G	ENSP00000478155.1:p.Tyr3974Cys
ENST00000613296.4:c.12047A>G	ENSP00000482968.1:p.Tyr4016Cys
ENST00000620466.4:n.5850A>G
NM_015120.4:c.12050A>G , LRG_741t1:c.12050A>G	NP_055935.4:p.Tyr4017Cys
NM_001378454.1:c.12047A>G MANE Select	NP_001365383.1:p.Tyr4016Cys