Canonical Allele Identifier: CA351245859

Gene: TRAF3IP1

Linked Data

• gnomAD v4: 2-238397501-A-C
• MyVariant Identifiers: chr2:g.239306142A>C (hg19) ; chr2:g.238397501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397501A>C , CM000664.2:g.238397501A>C	GRCh38
NC_000002.11:g.239306142A>C , CM000664.1:g.239306142A>C	GRCh37
NC_000002.10:g.238970881A>C	NCBI36
NG_053055.1:g.82013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1732A>C MANE Select	ENSP00000362424.4:p.Ile578Leu
ENST00000373327.4:c.1732A>C	ENSP00000362424.4:p.Ile578Leu
ENST00000391993.7:c.1534A>C	ENSP00000375851.3:p.Ile512Leu
ENST00000462122.1:n.743A>C
ENST00000483951.1:n.80A>C
NM_001139490.1:c.1534A>C	NP_001132962.1:p.Ile512Leu
NM_015650.3:c.1732A>C	NP_056465.2:p.Ile578Leu
XM_006712414.1:c.1531A>C	XP_006712477.1:p.Ile511Leu
XM_011510944.1:c.1834A>C	XP_011509246.1:p.Ile612Leu
XM_011510945.1:c.1795A>C	XP_011509247.1:p.Ile599Leu
XM_011510946.1:c.1762A>C	XP_011509248.1:p.Ile588Leu
XM_011510947.1:c.1702A>C	XP_011509249.1:p.Ile568Leu
XM_011510948.1:c.1636A>C	XP_011509250.1:p.Ile546Leu
XM_011510950.1:c.700A>C	XP_011509252.1:p.Ile234Leu
XR_922902.1:n.2031A>C
XM_006712414.2:c.1531A>C	XP_006712477.1:p.Ile511Leu
XM_011510944.2:c.1834A>C	XP_011509246.1:p.Ile612Leu
XM_011510945.2:c.1795A>C	XP_011509247.1:p.Ile599Leu
XM_011510946.2:c.1762A>C	XP_011509248.1:p.Ile588Leu
XM_011510947.2:c.1702A>C	XP_011509249.1:p.Ile568Leu
XM_011510948.2:c.1636A>C	XP_011509250.1:p.Ile546Leu
XM_011510950.2:c.700A>C	XP_011509252.1:p.Ile234Leu
XM_017003789.1:c.1831A>C	XP_016859278.1:p.Ile611Leu
XR_001738696.1:n.1560A>C
XR_001738697.1:n.1557A>C
XR_922902.2:n.2094A>C
NM_015650.4:c.1732A>C MANE Select	NP_056465.2:p.Ile578Leu