Canonical Allele Identifier: CA426783562

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1093889
• ClinVar RCV Id: RCV001414201
• dbSNP Id: rs28730862
• MyVariant Identifiers: chr2:g.73828443G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601316G>A , CM000664.2:g.73601316G>A	GRCh38
NC_000002.11:g.73828443G>A , CM000664.1:g.73828443G>A	GRCh37
NC_000002.10:g.73681951G>A	NCBI36
NG_011690.1:g.220564G>A , LRG_741:g.220564G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.11613G>A	ENSP00000507671.1:p.Arg3871=
ENST00000682801.1:c.11167-869G>A	ENSP00000507862.1:n.11167-869G>A
ENST00000682859.1:c.11613G>A	ENSP00000508222.1:p.Arg3871=
ENST00000683791.1:c.4699G>A
ENST00000684460.1:c.8894G>A
ENST00000684548.1:c.11613G>A	ENSP00000507421.1:p.Arg3871=
ENST00000684590.1:c.6060G>A	ENSP00000507376.1:p.Arg2020=
ENST00000684656.1:c.9078G>A
ENST00000613296.6:c.11994G>A MANE Select	ENSP00000482968.1:p.Arg3998=
ENST00000651057.1:c.2148G>A	ENSP00000498504.1:p.Arg716=
ENST00000651434.1:c.3350G>A
ENST00000651750.1:c.1260+435G>A
ENST00000652487.1:c.3165G>A
ENST00000464408.3:n.169G>A
ENST00000484298.5:c.11868G>A	ENSP00000478155.1:p.Arg3956=
ENST00000613296.4:c.11994G>A	ENSP00000482968.1:p.Arg3998=
ENST00000620466.4:n.5797G>A
NM_015120.4:c.11997G>A , LRG_741t1:c.11997G>A	NP_055935.4:p.Arg3999=
NM_001378454.1:c.11994G>A MANE Select	NP_001365383.1:p.Arg3998=