Canonical Allele Identifier: CA250383

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 209179
• ClinVar RCV Id: RCV000191115 ; RCV000210568 ; RCV000786780 ; RCV000676602
• dbSNP Id: rs201430951
• ExAC: 14:32068514 T / C
• gnomAD v2: 14-32068514-T-C
• gnomAD v3: 14-31599308-T-C
• gnomAD v4: 14-31599308-T-C
• MyVariant Identifiers: chr14:g.32068514T>C (hg19) ; chr14:g.31599308T>C (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31599308T>C , CM000676.2:g.31599308T>C	GRCh38
NC_000014.8:g.32068514T>C , CM000676.1:g.32068514T>C	GRCh37
NC_000014.7:g.31138265T>C	NCBI36
NG_028349.1:g.42924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281081.12:c.311T>C MANE Select	ENSP00000281081.7:p.Leu104Pro
ENST00000281081.11:c.311T>C	ENSP00000281081.7:p.Leu104Pro
ENST00000547839.5:c.311T>C	ENSP00000449918.1:p.Leu104Pro
ENST00000548937.5:n.315T>C
ENST00000549838.5:c.275T>C	ENSP00000447658.1:p.Leu92Pro
ENST00000550355.1:n.260T>C
ENST00000550649.5:c.291+34260T>C	ENSP00000447618.1:n.291+34260T>C
ENST00000551314.1:c.155T>C	ENSP00000447234.1:p.Leu52Pro
ENST00000552489.5:c.405T>C	ENSP00000447316.1:n.405T>C
NM_001201573.1:c.23T>C	NP_001188502.1:p.Leu8Pro
NM_025152.2:c.311T>C	NP_079428.2:p.Leu104Pro
NR_120408.1:n.366T>C
XM_005268099.3:c.311T>C	XP_005268156.1:p.Leu104Pro
XM_011537181.1:c.36T>C	XP_011535483.1:p.Ala12=
XM_011537182.1:c.-145T>C	XP_011535484.1:n.-145T>C
XM_011537183.1:c.311T>C	XP_011535485.1:p.Leu104Pro
XM_011537181.2:c.36T>C	XP_011535483.1:p.Ala12=
XM_011537182.2:c.-145T>C	XP_011535484.1:n.-145T>C
XM_011537183.2:c.311T>C	XP_011535485.1:p.Leu104Pro
XM_017021664.1:c.311T>C	XP_016877153.1:p.Leu104Pro
XM_017021665.2:c.311T>C	XP_016877154.1:p.Leu104Pro
XM_017021666.1:c.311T>C	XP_016877155.1:p.Leu104Pro
XM_017021667.1:c.-73T>C	XP_016877156.1:n.-73T>C
NM_025152.3:c.311T>C MANE Select	NP_079428.2:p.Leu104Pro
NR_120408.2:n.347T>C
NM_001201573.2:c.23T>C	NP_001188502.1:p.Leu8Pro