Canonical Allele Identifier: CA410602985
Gene: U2AF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43094475T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43094475T>A , CM000683.2:g.43094475T>A GRCh38
NG_029455.1:g.18104A>T , LRG_615:g.18104A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291552.9:c.571A>T MANE Select ENSP00000291552.4:p.Lys191Ter
ENST00000291552.8:c.571A>T ENSP00000291552.4:p.Lys191Ter
ENST00000380276.6:c.571A>T ENSP00000369629.2:p.Lys191Ter
ENST00000398137.5:c.352A>T ENSP00000381205.1:p.Lys118Ter
ENST00000459639.5:c.352A>T ENSP00000418705.1:p.Lys118Ter
ENST00000464750.5:c.*410A>T ENSP00000420672.1:n.*410A>T
ENST00000471250.5:n.1378A>T
ENST00000475639.5:n.4396A>T
ENST00000478282.1:n.1825A>T
ENST00000486519.5:n.618A>T
NM_001025203.1:c.571A>T , LRG_615t1:c.571A>T NP_001020374.1:p.Lys191Ter
NM_001025204.1:c.352A>T NP_001020375.1:p.Lys118Ter
NM_006758.2:c.571A>T , LRG_615t2:c.571A>T NP_006749.1:p.Lys191Ter
XM_011529743.1:c.472A>T XP_011528045.1:p.Lys158Ter
XM_011529743.3:c.472A>T XP_011528045.1:p.Lys158Ter
XM_017028468.2:c.472A>T XP_016883957.1:p.Lys158Ter
XM_024452129.1:c.352A>T XP_024307897.1:p.Lys118Ter
XM_024452130.1:c.352A>T XP_024307898.1:p.Lys118Ter
XM_024452131.1:c.352A>T XP_024307899.1:p.Lys118Ter
NM_001025204.2:c.352A>T NP_001020375.1:p.Lys118Ter
NM_006758.3:c.571A>T MANE Select NP_006749.1:p.Lys191Ter