Canonical Allele Identifier: CA50337258

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1424687
• ClinVar RCV Id: RCV001923956
• dbSNP Id: rs200170158
• MyVariant Identifiers: chr2:g.73828357T>C (hg19) ; chr2:g.73601230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601230T>C , CM000664.2:g.73601230T>C	GRCh38
NC_000002.11:g.73828357T>C , CM000664.1:g.73828357T>C	GRCh37
NC_000002.10:g.73681865T>C	NCBI36
NG_011690.1:g.220478T>C , LRG_741:g.220478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11527T>C	ENSP00000507671.1:p.Ser3843Pro
ENST00000682801.1:c.11167-955T>C	ENSP00000507862.1:n.11167-955T>C
ENST00000682859.1:c.11527T>C	ENSP00000508222.1:p.Ser3843Pro
ENST00000683791.1:c.4613T>C
ENST00000684460.1:c.8808T>C
ENST00000684548.1:c.11527T>C	ENSP00000507421.1:p.Ser3843Pro
ENST00000684590.1:c.5974T>C	ENSP00000507376.1:p.Ser1992Pro
ENST00000684656.1:c.8992T>C
ENST00000613296.6:c.11908T>C MANE Select	ENSP00000482968.1:p.Ser3970Pro
ENST00000651057.1:c.2062T>C	ENSP00000498504.1:p.Ser688Pro
ENST00000651434.1:c.3264T>C
ENST00000651750.1:c.1260+349T>C
ENST00000652487.1:c.3079T>C
ENST00000464408.3:n.83T>C
ENST00000484298.5:c.11782T>C	ENSP00000478155.1:p.Ser3928Pro
ENST00000613296.4:c.11908T>C	ENSP00000482968.1:p.Ser3970Pro
ENST00000620466.4:n.5711T>C
NM_015120.4:c.11911T>C , LRG_741t1:c.11911T>C	NP_055935.4:p.Ser3971Pro
NM_001378454.1:c.11908T>C MANE Select	NP_001365383.1:p.Ser3970Pro