Canonical Allele Identifier: CA424403261

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 532564
• ClinVar RCV Id: RCV002529977
• dbSNP Id: rs1262700547
• gnomAD v2: 1-245027217-C-T
• gnomAD v3: 1-244863915-C-T
• gnomAD v4: 1-244863915-C-T
• MyVariant Identifiers: chr1:g.245027217C>T (hg19) ; chr1:g.244863915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863915C>T , CM000663.2:g.244863915C>T	GRCh38
NC_000001.10:g.245027217C>T , CM000663.1:g.245027217C>T	GRCh37
NC_000001.9:g.243093840C>T	NCBI36
NG_042184.1:g.5611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.71G>A
ENST00000283179.14:c.393G>A	ENSP00000283179.10:p.Glu131=
ENST00000444376.7:c.393G>A	ENSP00000393151.2:p.Glu131=
ENST00000476241.2:n.578G>A
ENST00000638475.1:c.177G>A	ENSP00000491305.1:p.Glu59=
ENST00000638952.1:n.624G>A
ENST00000640218.2:c.393G>A MANE Select	ENSP00000491215.1:p.Glu131=
ENST00000640306.1:c.393G>A	ENSP00000491685.1:p.Glu131=
ENST00000640440.1:c.93G>A	ENSP00000491263.1:p.Glu31=
ENST00000649899.1:n.617G>A
ENST00000283179.13:c.393G>A	ENSP00000283179.9:p.Glu131=
ENST00000444376.6:c.393G>A	ENSP00000393151.2:p.Glu131=
ENST00000476241.1:n.577G>A
NM_004501.3:c.393G>A	NP_004492.2:p.Glu131=
NM_031844.2:c.393G>A	NP_114032.2:p.Glu131=
NM_031844.3:c.393G>A MANE Select	NP_114032.2:p.Glu131=