Canonical Allele Identifier: CA186109

Gene: SNRPB

Linked Data

• ClinVar Variation Id: 183431
• ClinVar RCV Id: RCV000162249 ; RCV003416031
• dbSNP Id: rs786201019
• MyVariant Identifiers: chr20:g.2447952C>G (hg19) ; chr20:g.2467306C>G (hg38)
• PubMed: PMID:25047197 ; PMID:25504470 ; PMID:26240113 ; PMID:26971886 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2467306C>G , CM000682.2:g.2467306C>G	GRCh38
NC_000020.10:g.2447952C>G , CM000682.1:g.2447952C>G	GRCh37
NC_000020.9:g.2395952C>G	NCBI36
NG_042057.1:g.8548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688423.1:n.553G>C
ENST00000688775.1:n.553G>C
ENST00000689440.1:n.264G>C
ENST00000690623.1:n.214G>C
ENST00000693393.1:n.555G>C
ENST00000381342.7:c.155+301G>C MANE Select	ENSP00000370746.3:n.155+301G>C
ENST00000339610.10:c.155+301G>C	ENSP00000342305.7:n.155+301G>C
ENST00000381342.6:c.155+301G>C	ENSP00000370746.2:n.155+301G>C
ENST00000438552.6:c.155+301G>C	ENSP00000412566.2:n.155+301G>C
ENST00000461548.1:c.*124G>C	ENSP00000456213.1:n.*124G>C
ENST00000474384.2:c.165G>C	ENSP00000474579.1:p.Arg55Ser
NM_003091.3:c.155+301G>C	NP_003082.1:n.155+301G>C
NM_198216.1:c.155+301G>C	NP_937859.1:n.155+301G>C
NM_003091.4:c.155+301G>C MANE Select	NP_003082.1:n.155+301G>C
NM_198216.2:c.155+301G>C	NP_937859.1:n.155+301G>C