Canonical Allele Identifier: CA410603002
Gene: U2AF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43094483C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43094483C>A , CM000683.2:g.43094483C>A GRCh38
NG_029455.1:g.18096G>T , LRG_615:g.18096G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291552.9:c.563G>T MANE Select ENSP00000291552.4:p.Arg188Leu
ENST00000291552.8:c.563G>T ENSP00000291552.4:p.Arg188Leu
ENST00000380276.6:c.563G>T ENSP00000369629.2:p.Arg188Leu
ENST00000398137.5:c.344G>T ENSP00000381205.1:p.Arg115Leu
ENST00000459639.5:c.344G>T ENSP00000418705.1:p.Arg115Leu
ENST00000464750.5:c.*402G>T ENSP00000420672.1:n.*402G>T
ENST00000471250.5:n.1370G>T
ENST00000475639.5:n.4388G>T
ENST00000478282.1:n.1817G>T
ENST00000486519.5:n.610G>T
NM_001025203.1:c.563G>T , LRG_615t1:c.563G>T NP_001020374.1:p.Arg188Leu
NM_001025204.1:c.344G>T NP_001020375.1:p.Arg115Leu
NM_006758.2:c.563G>T , LRG_615t2:c.563G>T NP_006749.1:p.Arg188Leu
XM_011529743.1:c.464G>T XP_011528045.1:p.Arg155Leu
XM_011529743.3:c.464G>T XP_011528045.1:p.Arg155Leu
XM_017028468.2:c.464G>T XP_016883957.1:p.Arg155Leu
XM_024452129.1:c.344G>T XP_024307897.1:p.Arg115Leu
XM_024452130.1:c.344G>T XP_024307898.1:p.Arg115Leu
XM_024452131.1:c.344G>T XP_024307899.1:p.Arg115Leu
NM_001025204.2:c.344G>T NP_001020375.1:p.Arg115Leu
NM_006758.3:c.563G>T MANE Select NP_006749.1:p.Arg188Leu