Canonical Allele Identifier: CA1715418

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 599297
• ClinVar RCV Id: RCV000735892 ; RCV001172502 ; RCV001830648 ; RCV002343607
• dbSNP Id: rs754439156
• ExAC: 2:73828525 A / G
• gnomAD v2: 2-73828525-A-G
• gnomAD v3: 2-73601398-A-G
• gnomAD v4: 2-73601398-A-G
• MyVariant Identifiers: chr2:g.73828525A>G (hg19) ; chr2:g.73601398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601398A>G , CM000664.2:g.73601398A>G	GRCh38
NC_000002.11:g.73828525A>G , CM000664.1:g.73828525A>G	GRCh37
NC_000002.10:g.73682033A>G	NCBI36
NG_011690.1:g.220646A>G , LRG_741:g.220646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11695A>G	ENSP00000507671.1:p.Arg3899Gly
ENST00000682801.1:c.11167-787A>G	ENSP00000507862.1:n.11167-787A>G
ENST00000682859.1:c.11695A>G	ENSP00000508222.1:p.Arg3899Gly
ENST00000683791.1:c.4781A>G
ENST00000684460.1:c.8976A>G
ENST00000684548.1:c.11695A>G	ENSP00000507421.1:p.Arg3899Gly
ENST00000684590.1:c.6142A>G	ENSP00000507376.1:p.Arg2048Gly
ENST00000684656.1:c.9160A>G
ENST00000613296.6:c.12076A>G MANE Select	ENSP00000482968.1:p.Arg4026Gly
ENST00000651057.1:c.2230A>G	ENSP00000498504.1:p.Arg744Gly
ENST00000651434.1:c.3432A>G
ENST00000651750.1:c.1260+517A>G
ENST00000652487.1:c.3247A>G
ENST00000464408.3:n.251A>G
ENST00000484298.5:c.11950A>G	ENSP00000478155.1:p.Arg3984Gly
ENST00000613296.4:c.12076A>G	ENSP00000482968.1:p.Arg4026Gly
ENST00000620466.4:n.5879A>G
NM_015120.4:c.12079A>G , LRG_741t1:c.12079A>G	NP_055935.4:p.Arg4027Gly
NM_001378454.1:c.12076A>G MANE Select	NP_001365383.1:p.Arg4026Gly