Canonical Allele Identifier: CA345497288

Gene: HNRNPU

Linked Data

• MyVariant Identifiers: chr1:g.245027246C>A (hg19) ; chr1:g.244863944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863944C>A , CM000663.2:g.244863944C>A	GRCh38
NC_000001.10:g.245027246C>A , CM000663.1:g.245027246C>A	GRCh37
NC_000001.9:g.243093869C>A	NCBI36
NG_042184.1:g.5582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.42G>T
ENST00000283179.14:c.364G>T	ENSP00000283179.10:p.Glu122Ter
ENST00000444376.7:c.364G>T	ENSP00000393151.2:p.Glu122Ter
ENST00000476241.2:n.549G>T
ENST00000638475.1:c.148G>T	ENSP00000491305.1:p.Glu50Ter
ENST00000638952.1:n.595G>T
ENST00000640218.2:c.364G>T MANE Select	ENSP00000491215.1:p.Glu122Ter
ENST00000640306.1:c.364G>T	ENSP00000491685.1:p.Glu122Ter
ENST00000640440.1:c.64G>T	ENSP00000491263.1:p.Glu22Ter
ENST00000649899.1:n.588G>T
ENST00000283179.13:c.364G>T	ENSP00000283179.9:p.Glu122Ter
ENST00000444376.6:c.364G>T	ENSP00000393151.2:p.Glu122Ter
ENST00000476241.1:n.548G>T
NM_004501.3:c.364G>T	NP_004492.2:p.Glu122Ter
NM_031844.2:c.364G>T	NP_114032.2:p.Glu122Ter
NM_031844.3:c.364G>T MANE Select	NP_114032.2:p.Glu122Ter