Canonical Allele Identifier: CA389481396

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 2085361
• ClinVar RCV Id: RCV002996233
• dbSNP Id: rs2040672185
• MyVariant Identifiers: chr14:g.32328346C>T (hg19) ; chr14:g.31859140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31859140C>T , CM000676.2:g.31859140C>T	GRCh38
NC_000014.8:g.32328346C>T , CM000676.1:g.32328346C>T	GRCh37
NC_000014.7:g.31398097C>T	NCBI36
NG_028349.1:g.302756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281081.12:c.920C>T MANE Select	ENSP00000281081.7:p.Ala307Val
ENST00000281081.11:c.920C>T	ENSP00000281081.7:p.Ala307Val
ENST00000418681.6:n.642C>T
ENST00000547839.5:c.*304C>T	ENSP00000449918.1:n.*304C>T
ENST00000552888.1:n.2954C>T
NM_001201573.1:c.632C>T	NP_001188502.1:p.Ala211Val
NM_001201574.1:c.371C>T	NP_001188503.1:p.Ala124Val
NM_025152.2:c.920C>T	NP_079428.2:p.Ala307Val
NR_120408.1:n.881C>T
XM_011537181.1:c.605C>T	XP_011535483.1:p.Ala202Val
XM_011537182.1:c.530C>T	XP_011535484.1:p.Ala177Val
XM_011537184.1:c.371C>T	XP_011535486.1:p.Ala124Val
XM_011537181.2:c.605C>T	XP_011535483.1:p.Ala202Val
XM_011537182.2:c.530C>T	XP_011535484.1:p.Ala177Val
XM_011537184.3:c.371C>T	XP_011535486.1:p.Ala124Val
XM_017021667.1:c.497C>T	XP_016877156.1:p.Ala166Val
NM_025152.3:c.920C>T MANE Select	NP_079428.2:p.Ala307Val
NR_120408.2:n.862C>T
NM_001201573.2:c.632C>T	NP_001188502.1:p.Ala211Val
NM_001201574.2:c.371C>T	NP_001188503.1:p.Ala124Val