Canonical Allele Identifier: CA410603020

Gene: U2AF1

Linked Data

• gnomAD v4: 21-43094492-A-G
• MyVariant Identifiers: chr21:g.43094492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43094492A>G , CM000683.2:g.43094492A>G	GRCh38
NG_029455.1:g.18087T>C , LRG_615:g.18087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291552.9:c.554T>C MANE Select	ENSP00000291552.4:p.Leu185Pro
ENST00000291552.8:c.554T>C	ENSP00000291552.4:p.Leu185Pro
ENST00000380276.6:c.554T>C	ENSP00000369629.2:p.Leu185Pro
ENST00000398137.5:c.335T>C	ENSP00000381205.1:p.Leu112Pro
ENST00000459639.5:c.335T>C	ENSP00000418705.1:p.Leu112Pro
ENST00000464750.5:c.*393T>C	ENSP00000420672.1:n.*393T>C
ENST00000471250.5:n.1361T>C
ENST00000475639.5:n.4379T>C
ENST00000478282.1:n.1808T>C
ENST00000486519.5:n.601T>C
NM_001025203.1:c.554T>C , LRG_615t1:c.554T>C	NP_001020374.1:p.Leu185Pro
NM_001025204.1:c.335T>C	NP_001020375.1:p.Leu112Pro
NM_006758.2:c.554T>C , LRG_615t2:c.554T>C	NP_006749.1:p.Leu185Pro
XM_011529743.1:c.455T>C	XP_011528045.1:p.Leu152Pro
XM_011529743.3:c.455T>C	XP_011528045.1:p.Leu152Pro
XM_017028468.2:c.455T>C	XP_016883957.1:p.Leu152Pro
XM_024452129.1:c.335T>C	XP_024307897.1:p.Leu112Pro
XM_024452130.1:c.335T>C	XP_024307898.1:p.Leu112Pro
XM_024452131.1:c.335T>C	XP_024307899.1:p.Leu112Pro
NM_001025204.2:c.335T>C	NP_001020375.1:p.Leu112Pro
NM_006758.3:c.554T>C MANE Select	NP_006749.1:p.Leu185Pro