Canonical Allele Identifier: CA315544687

Gene: RBPJL

Linked Data

• ClinVar Variation Id: 444114
• ClinVar RCV Id: RCV000626350
• dbSNP Id: rs2076027
• gnomAD v2: 20-43937818-T-C
• gnomAD v3: 20-45309178-T-C
• gnomAD v4: 20-45309178-T-C
• MyVariant Identifiers: chr20:g.43937818T>C (hg19) ; chr20:g.45309178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45309178T>C , CM000682.2:g.45309178T>C	GRCh38
NC_000020.10:g.43937818T>C , CM000682.1:g.43937818T>C	GRCh37
NC_000020.9:g.43371232T>C	NCBI36
NG_033953.1:g.4352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343694.8:c.132-389T>C MANE Select	ENSP00000341243.3:n.132-389T>C
ENST00000343694.7:c.132-389T>C	ENSP00000341243.3:n.132-389T>C
ENST00000372741.7:c.132-389T>C	ENSP00000361826.3:n.132-389T>C
ENST00000372743.5:c.132-389T>C	ENSP00000361828.1:n.132-389T>C
NM_001281448.1:c.132-389T>C	NP_001268377.1:n.132-389T>C
NM_001281449.1:c.132-389T>C	NP_001268378.1:n.132-389T>C
NM_014276.3:c.132-389T>C	NP_055091.2:n.132-389T>C
XM_011528521.1:c.132-389T>C	XP_011526823.1:n.132-389T>C
XM_011528522.1:c.132-389T>C	XP_011526824.1:n.132-389T>C
XM_011528523.1:c.132-389T>C	XP_011526825.1:n.132-389T>C
XR_936496.1:n.231-389T>C
XR_936497.1:n.231-389T>C
XM_011528521.2:c.132-389T>C	XP_011526823.1:n.132-389T>C
XM_011528522.2:c.132-389T>C	XP_011526824.1:n.132-389T>C
XM_011528523.2:c.132-389T>C	XP_011526825.1:n.132-389T>C
XR_936496.2:n.219-389T>C
XR_936497.2:n.219-389T>C
NM_014276.4:c.132-389T>C MANE Select	NP_055091.2:n.132-389T>C
NM_001281448.2:c.132-389T>C	NP_001268377.1:n.132-389T>C
NM_001281449.2:c.132-389T>C	NP_001268378.1:n.132-389T>C