Canonical Allele Identifier: CA345497325

Gene: HNRNPU

Linked Data

• dbSNP Id: rs2102990776
• COSMIC: COSM345023 ; COSM345024
• MyVariant Identifiers: chr1:g.245027264C>G (hg19) ; chr1:g.244863962C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863962C>G , CM000663.2:g.244863962C>G	GRCh38
NC_000001.10:g.245027264C>G , CM000663.1:g.245027264C>G	GRCh37
NC_000001.9:g.243093887C>G	NCBI36
NG_042184.1:g.5564G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.24G>C
ENST00000283179.14:c.346G>C	ENSP00000283179.10:p.Ala116Pro
ENST00000444376.7:c.346G>C	ENSP00000393151.2:p.Ala116Pro
ENST00000476241.2:n.531G>C
ENST00000638475.1:c.130G>C	ENSP00000491305.1:p.Ala44Pro
ENST00000638952.1:n.577G>C
ENST00000640218.2:c.346G>C MANE Select	ENSP00000491215.1:p.Ala116Pro
ENST00000640306.1:c.346G>C	ENSP00000491685.1:p.Ala116Pro
ENST00000640440.1:c.46G>C	ENSP00000491263.1:p.Ala16Pro
ENST00000649899.1:n.570G>C
ENST00000283179.13:c.346G>C	ENSP00000283179.9:p.Ala116Pro
ENST00000444376.6:c.346G>C	ENSP00000393151.2:p.Ala116Pro
ENST00000476241.1:n.530G>C
NM_004501.3:c.346G>C	NP_004492.2:p.Ala116Pro
NM_031844.2:c.346G>C	NP_114032.2:p.Ala116Pro
NM_031844.3:c.346G>C MANE Select	NP_114032.2:p.Ala116Pro