Canonical Allele Identifier: CA389481831

Gene: NUBPL

Linked Data

• MyVariant Identifiers: chr14:g.32031338C>A (hg19) ; chr14:g.31562132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31562132C>A , CM000676.2:g.31562132C>A	GRCh38
NC_000014.8:g.32031338C>A , CM000676.1:g.32031338C>A	GRCh37
NC_000014.7:g.31101089C>A	NCBI36
NG_028349.1:g.5748C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281081.12:c.173C>A MANE Select	ENSP00000281081.7:p.Pro58Gln
ENST00000281081.11:c.173C>A	ENSP00000281081.7:p.Pro58Gln
ENST00000547839.5:c.173C>A	ENSP00000449918.1:p.Pro58Gln
ENST00000548937.5:n.177C>A
ENST00000549838.5:c.137C>A	ENSP00000447658.1:p.Pro46Gln
ENST00000550005.1:c.98C>A	ENSP00000446511.1:p.Pro33Gln
ENST00000550355.1:n.122C>A
ENST00000550649.5:c.173C>A	ENSP00000447618.1:p.Pro58Gln
ENST00000551314.1:c.17C>A	ENSP00000447234.1:p.Pro6Gln
ENST00000552489.5:c.173C>A	ENSP00000447316.1:p.Pro58Gln
NM_025152.2:c.173C>A	NP_079428.2:p.Pro58Gln
NR_120408.1:n.228C>A
XM_005268099.3:c.173C>A	XP_005268156.1:p.Pro58Gln
XM_011537182.1:c.-283C>A	XP_011535484.1:n.-283C>A
XM_011537183.1:c.173C>A	XP_011535485.1:p.Pro58Gln
XM_011537182.2:c.-283C>A	XP_011535484.1:n.-283C>A
XM_011537183.2:c.173C>A	XP_011535485.1:p.Pro58Gln
XM_017021664.1:c.173C>A	XP_016877153.1:p.Pro58Gln
XM_017021665.2:c.173C>A	XP_016877154.1:p.Pro58Gln
XM_017021666.1:c.173C>A	XP_016877155.1:p.Pro58Gln
XM_017021667.1:c.-211C>A	XP_016877156.1:n.-211C>A
NM_025152.3:c.173C>A MANE Select	NP_079428.2:p.Pro58Gln
NR_120408.2:n.209C>A