Canonical Allele Identifier: CA365786970

Gene: TNFAIP3

Linked Data

• ClinVar Variation Id: 1390600
• ClinVar RCV Id: RCV001891079
• dbSNP Id: rs2114489742
• MyVariant Identifiers: chr6:g.138198231T>C (hg19) ; chr6:g.137877094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137877094T>C , CM000668.2:g.137877094T>C	GRCh38
NC_000006.11:g.138198231T>C , CM000668.1:g.138198231T>C	GRCh37
NC_000006.10:g.138239924T>C	NCBI36
NG_032761.1:g.14651T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000420009.6:c.824T>C	ENSP00000401562.2:p.Leu275Pro
ENST00000711061.1:c.*547T>C	ENSP00000518561.1:n.*547T>C
ENST00000421450.2:c.824T>C	ENSP00000393577.2:p.Leu275Pro
ENST00000433680.2:c.824T>C	ENSP00000409845.2:p.Leu275Pro
ENST00000485192.2:n.1445T>C
ENST00000698329.1:n.1173T>C
ENST00000698330.1:n.296-1338T>C
ENST00000612899.5:c.824T>C MANE Select	ENSP00000481570.1:p.Leu275Pro
ENST00000237289.8:c.824T>C	ENSP00000237289.4:p.Leu275Pro
ENST00000485192.1:n.348T>C
ENST00000612899.4:c.824T>C	ENSP00000481570.1:p.Leu275Pro
ENST00000614035.4:c.824T>C	ENSP00000481122.2:p.Leu275Pro
ENST00000615468.4:c.*178T>C	ENSP00000479556.1:n.*178T>C
ENST00000619035.4:c.824T>C	ENSP00000478438.1:p.Leu275Pro
ENST00000620204.3:c.824T>C	ENSP00000481454.1:p.Leu275Pro
ENST00000621150.3:c.824T>C	ENSP00000484332.2:p.Leu275Pro
NM_001270507.1:c.824T>C	NP_001257436.1:p.Leu275Pro
NM_001270508.1:c.824T>C	NP_001257437.1:p.Leu275Pro
NM_006290.3:c.824T>C	NP_006281.1:p.Leu275Pro
XM_005267119.1:c.824T>C	XP_005267176.1:p.Leu275Pro
XM_006715555.1:c.185T>C	XP_006715618.1:p.Leu62Pro
XM_011536095.1:c.824T>C	XP_011534397.1:p.Leu275Pro
XM_011536096.1:c.824T>C	XP_011534398.1:p.Leu275Pro
XM_011536096.2:c.824T>C	XP_011534398.1:p.Leu275Pro
XM_024446532.1:c.824T>C	XP_024302300.1:p.Leu275Pro
XM_024446533.1:c.824T>C	XP_024302301.1:p.Leu275Pro
NM_001270508.2:c.824T>C MANE Select	NP_001257437.1:p.Leu275Pro
NM_001270507.2:c.824T>C	NP_001257436.1:p.Leu275Pro
NM_006290.4:c.824T>C	NP_006281.1:p.Leu275Pro