Canonical Allele Identifier: CA1715397

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 552781
• ClinVar RCV Id: RCV000668108 ; RCV002343418 ; RCV001756132
• dbSNP Id: rs28730862
• ExAC: 2:73828443 G / C
• gnomAD v2: 2-73828443-G-C
• gnomAD v3: 2-73601316-G-C
• gnomAD v4: 2-73601316-G-C
• MyVariant Identifiers: chr2:g.73828443G>C (hg19) ; chr2:g.73601316G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11613G>C	ENSP00000507671.1:p.Arg3871Ser
ENST00000682801.1:c.11167-869G>C	ENSP00000507862.1:n.11167-869G>C
ENST00000682859.1:c.11613G>C	ENSP00000508222.1:p.Arg3871Ser
ENST00000683791.1:c.4699G>C
ENST00000684460.1:c.8894G>C
ENST00000684548.1:c.11613G>C	ENSP00000507421.1:p.Arg3871Ser
ENST00000684590.1:c.6060G>C	ENSP00000507376.1:p.Arg2020Ser
ENST00000684656.1:c.9078G>C
ENST00000613296.6:c.11994G>C MANE Select	ENSP00000482968.1:p.Arg3998Ser
ENST00000651057.1:c.2148G>C	ENSP00000498504.1:p.Arg716Ser
ENST00000651434.1:c.3350G>C
ENST00000651750.1:c.1260+435G>C
ENST00000652487.1:c.3165G>C
ENST00000464408.3:n.169G>C
ENST00000484298.5:c.11868G>C	ENSP00000478155.1:p.Arg3956Ser
ENST00000613296.4:c.11994G>C	ENSP00000482968.1:p.Arg3998Ser
ENST00000620466.4:n.5797G>C
NM_015120.4:c.11997G>C , LRG_741t1:c.11997G>C	NP_055935.4:p.Arg3999Ser
NM_001378454.1:c.11994G>C MANE Select	NP_001365383.1:p.Arg3998Ser