Canonical Allele Identifier: CA389481914

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 2013785
• ClinVar RCV Id: RCV002856584
• gnomAD v4: 14-31562169-A-G
• MyVariant Identifiers: chr14:g.32031375A>G (hg19) ; chr14:g.31562169A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31562169A>G , CM000676.2:g.31562169A>G	GRCh38
NC_000014.8:g.32031375A>G , CM000676.1:g.32031375A>G	GRCh37
NC_000014.7:g.31101126A>G	NCBI36
NG_028349.1:g.5785A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281081.12:c.210A>G MANE Select	ENSP00000281081.7:p.Ile70Met
ENST00000281081.11:c.210A>G	ENSP00000281081.7:p.Ile70Met
ENST00000547839.5:c.210A>G	ENSP00000449918.1:p.Ile70Met
ENST00000548937.5:n.214A>G
ENST00000549838.5:c.174A>G	ENSP00000447658.1:p.Ile58Met
ENST00000550005.1:c.135A>G	ENSP00000446511.1:p.Ile45Met
ENST00000550355.1:n.159A>G
ENST00000550649.5:c.210A>G	ENSP00000447618.1:p.Ile70Met
ENST00000551314.1:c.54A>G	ENSP00000447234.1:p.Ile18Met
ENST00000552489.5:c.210A>G	ENSP00000447316.1:p.Ile70Met
NM_025152.2:c.210A>G	NP_079428.2:p.Ile70Met
NR_120408.1:n.265A>G
XM_005268099.3:c.210A>G	XP_005268156.1:p.Ile70Met
XM_011537182.1:c.-246A>G	XP_011535484.1:n.-246A>G
XM_011537183.1:c.210A>G	XP_011535485.1:p.Ile70Met
XM_011537182.2:c.-246A>G	XP_011535484.1:n.-246A>G
XM_011537183.2:c.210A>G	XP_011535485.1:p.Ile70Met
XM_017021664.1:c.210A>G	XP_016877153.1:p.Ile70Met
XM_017021665.2:c.210A>G	XP_016877154.1:p.Ile70Met
XM_017021666.1:c.210A>G	XP_016877155.1:p.Ile70Met
XM_017021667.1:c.-174A>G	XP_016877156.1:n.-174A>G
NM_025152.3:c.210A>G MANE Select	NP_079428.2:p.Ile70Met
NR_120408.2:n.246A>G