Canonical Allele Identifier: CA345496383

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2178859
• ClinVar RCV Id: RCV002588730
• gnomAD v4: 1-244863709-G-A
• MyVariant Identifiers: chr1:g.245027011G>A (hg19) ; chr1:g.244863709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863709G>A , CM000663.2:g.244863709G>A	GRCh38
NC_000001.10:g.245027011G>A , CM000663.1:g.245027011G>A	GRCh37
NC_000001.9:g.243093634G>A	NCBI36
NG_042184.1:g.5817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.277C>T
ENST00000283179.14:c.599C>T	ENSP00000283179.10:p.Pro200Leu
ENST00000444376.7:c.599C>T	ENSP00000393151.2:p.Pro200Leu
ENST00000476241.2:n.784C>T
ENST00000638475.1:c.383C>T	ENSP00000491305.1:p.Pro128Leu
ENST00000638952.1:n.830C>T
ENST00000640218.2:c.599C>T MANE Select	ENSP00000491215.1:p.Pro200Leu
ENST00000640306.1:c.599C>T	ENSP00000491685.1:p.Pro200Leu
ENST00000640440.1:c.299C>T	ENSP00000491263.1:p.Pro100Leu
ENST00000649899.1:n.823C>T
ENST00000283179.13:c.599C>T	ENSP00000283179.9:p.Pro200Leu
ENST00000444376.6:c.599C>T	ENSP00000393151.2:p.Pro200Leu
ENST00000476241.1:n.783C>T
NM_004501.3:c.599C>T	NP_004492.2:p.Pro200Leu
NM_031844.2:c.599C>T	NP_114032.2:p.Pro200Leu
NM_031844.3:c.599C>T MANE Select	NP_114032.2:p.Pro200Leu