Canonical Allele Identifier: CA1715409

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1404322
• ClinVar RCV Id: RCV001927697 ; RCV002344004
• dbSNP Id: rs543346172
• ExAC: 2:73828489 C / T
• gnomAD v2: 2-73828489-C-T
• gnomAD v3: 2-73601362-C-T
• gnomAD v4: 2-73601362-C-T
• MyVariant Identifiers: chr2:g.73828489C>T (hg19) ; chr2:g.73601362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601362C>T , CM000664.2:g.73601362C>T	GRCh38
NC_000002.11:g.73828489C>T , CM000664.1:g.73828489C>T	GRCh37
NC_000002.10:g.73681997C>T	NCBI36
NG_011690.1:g.220610C>T , LRG_741:g.220610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11659C>T	ENSP00000507671.1:p.Arg3887Trp
ENST00000682801.1:c.11167-823C>T	ENSP00000507862.1:n.11167-823C>T
ENST00000682859.1:c.11659C>T	ENSP00000508222.1:p.Arg3887Trp
ENST00000683791.1:c.4745C>T
ENST00000684460.1:c.8940C>T
ENST00000684548.1:c.11659C>T	ENSP00000507421.1:p.Arg3887Trp
ENST00000684590.1:c.6106C>T	ENSP00000507376.1:p.Arg2036Trp
ENST00000684656.1:c.9124C>T
ENST00000613296.6:c.12040C>T MANE Select	ENSP00000482968.1:p.Arg4014Trp
ENST00000651057.1:c.2194C>T	ENSP00000498504.1:p.Arg732Trp
ENST00000651434.1:c.3396C>T
ENST00000651750.1:c.1260+481C>T
ENST00000652487.1:c.3211C>T
ENST00000464408.3:n.215C>T
ENST00000484298.5:c.11914C>T	ENSP00000478155.1:p.Arg3972Trp
ENST00000613296.4:c.12040C>T	ENSP00000482968.1:p.Arg4014Trp
ENST00000620466.4:n.5843C>T
NM_015120.4:c.12043C>T , LRG_741t1:c.12043C>T	NP_055935.4:p.Arg4015Trp
NM_001378454.1:c.12040C>T MANE Select	NP_001365383.1:p.Arg4014Trp