Canonical Allele Identifier: CA1486780

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2955487
• ClinVar RCV Id: RCV003810638
• dbSNP Id: rs747403316
• ExAC: 1:245027068 T / G
• gnomAD v2: 1-245027068-T-G
• gnomAD v3: 1-244863766-T-G
• gnomAD v4: 1-244863766-T-G
• MyVariant Identifiers: chr1:g.245027068T>G (hg19) ; chr1:g.244863766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863766T>G , CM000663.2:g.244863766T>G	GRCh38
NC_000001.10:g.245027068T>G , CM000663.1:g.245027068T>G	GRCh37
NC_000001.9:g.243093691T>G	NCBI36
NG_042184.1:g.5760A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.220A>C
ENST00000283179.14:c.542A>C	ENSP00000283179.10:p.Lys181Thr
ENST00000444376.7:c.542A>C	ENSP00000393151.2:p.Lys181Thr
ENST00000476241.2:n.727A>C
ENST00000638475.1:c.326A>C	ENSP00000491305.1:p.Lys109Thr
ENST00000638952.1:n.773A>C
ENST00000640218.2:c.542A>C MANE Select	ENSP00000491215.1:p.Lys181Thr
ENST00000640306.1:c.542A>C	ENSP00000491685.1:p.Lys181Thr
ENST00000640440.1:c.242A>C	ENSP00000491263.1:p.Lys81Thr
ENST00000649899.1:n.766A>C
ENST00000283179.13:c.542A>C	ENSP00000283179.9:p.Lys181Thr
ENST00000444376.6:c.542A>C	ENSP00000393151.2:p.Lys181Thr
ENST00000476241.1:n.726A>C
NM_004501.3:c.542A>C	NP_004492.2:p.Lys181Thr
NM_031844.2:c.542A>C	NP_114032.2:p.Lys181Thr
NM_031844.3:c.542A>C MANE Select	NP_114032.2:p.Lys181Thr