Canonical Allele Identifier: CA7147771

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 313022
• ClinVar RCV Id: RCV000370184 ; RCV000910512
• dbSNP Id: rs373232503
• ExAC: 14:32034248 C / T
• gnomAD v2: 14-32034248-C-T
• gnomAD v3: 14-31565042-C-T
• gnomAD v4: 14-31565042-C-T
• COSMIC: COSM3719482 ; COSM3719483
• MyVariant Identifiers: chr14:g.32034248C>T (hg19) ; chr14:g.31565042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31565042C>T , CM000676.2:g.31565042C>T	GRCh38
NC_000014.8:g.32034248C>T , CM000676.1:g.32034248C>T	GRCh37
NC_000014.7:g.31103999C>T	NCBI36
NG_028349.1:g.8658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281081.12:c.285C>T MANE Select	ENSP00000281081.7:p.Asn95=
ENST00000281081.11:c.285C>T	ENSP00000281081.7:p.Asn95=
ENST00000547839.5:c.285C>T	ENSP00000449918.1:p.Asn95=
ENST00000548937.5:n.289C>T
ENST00000549838.5:c.249C>T	ENSP00000447658.1:p.Asn83=
ENST00000550355.1:n.234C>T
ENST00000550649.5:c.285C>T	ENSP00000447618.1:p.Asn95=
ENST00000551314.1:c.129C>T	ENSP00000447234.1:p.Asn43=
ENST00000552489.5:c.379C>T	ENSP00000447316.1:n.379C>T
NM_025152.2:c.285C>T	NP_079428.2:p.Asn95=
NR_120408.1:n.340C>T
XM_005268099.3:c.285C>T	XP_005268156.1:p.Asn95=
XM_011537182.1:c.-171C>T	XP_011535484.1:n.-171C>T
XM_011537183.1:c.285C>T	XP_011535485.1:p.Asn95=
XM_011537182.2:c.-171C>T	XP_011535484.1:n.-171C>T
XM_011537183.2:c.285C>T	XP_011535485.1:p.Asn95=
XM_017021664.1:c.285C>T	XP_016877153.1:p.Asn95=
XM_017021665.2:c.285C>T	XP_016877154.1:p.Asn95=
XM_017021666.1:c.285C>T	XP_016877155.1:p.Asn95=
XM_017021667.1:c.-99C>T	XP_016877156.1:n.-99C>T
NM_025152.3:c.285C>T MANE Select	NP_079428.2:p.Asn95=
NR_120408.2:n.321C>T