Canonical Allele Identifier: CA351246082

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 862831
• ClinVar RCV Id: RCV001069643
• dbSNP Id: rs1229693908
• gnomAD v2: 2-239306188-T-C
• gnomAD v4: 2-238397547-T-C
• MyVariant Identifiers: chr2:g.239306188T>C (hg19) ; chr2:g.238397547T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397547T>C , CM000664.2:g.238397547T>C	GRCh38
NC_000002.11:g.239306188T>C , CM000664.1:g.239306188T>C	GRCh37
NC_000002.10:g.238970927T>C	NCBI36
NG_053055.1:g.82059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1778T>C MANE Select	ENSP00000362424.4:p.Leu593Pro
ENST00000373327.4:c.1778T>C	ENSP00000362424.4:p.Leu593Pro
ENST00000391993.7:c.1580T>C	ENSP00000375851.3:p.Leu527Pro
ENST00000462122.1:n.789T>C
ENST00000483951.1:n.126T>C
NM_001139490.1:c.1580T>C	NP_001132962.1:p.Leu527Pro
NM_015650.3:c.1778T>C	NP_056465.2:p.Leu593Pro
XM_006712414.1:c.1577T>C	XP_006712477.1:p.Leu526Pro
XM_011510944.1:c.1880T>C	XP_011509246.1:p.Leu627Pro
XM_011510945.1:c.1841T>C	XP_011509247.1:p.Leu614Pro
XM_011510946.1:c.1808T>C	XP_011509248.1:p.Leu603Pro
XM_011510947.1:c.1748T>C	XP_011509249.1:p.Leu583Pro
XM_011510948.1:c.1682T>C	XP_011509250.1:p.Leu561Pro
XM_011510950.1:c.746T>C	XP_011509252.1:p.Leu249Pro
XM_006712414.2:c.1577T>C	XP_006712477.1:p.Leu526Pro
XM_011510944.2:c.1880T>C	XP_011509246.1:p.Leu627Pro
XM_011510945.2:c.1841T>C	XP_011509247.1:p.Leu614Pro
XM_011510946.2:c.1808T>C	XP_011509248.1:p.Leu603Pro
XM_011510947.2:c.1748T>C	XP_011509249.1:p.Leu583Pro
XM_011510948.2:c.1682T>C	XP_011509250.1:p.Leu561Pro
XM_011510950.2:c.746T>C	XP_011509252.1:p.Leu249Pro
XM_017003789.1:c.1877T>C	XP_016859278.1:p.Leu626Pro
XR_001738696.1:n.1606T>C
XR_001738697.1:n.1603T>C
NM_015650.4:c.1778T>C MANE Select	NP_056465.2:p.Leu593Pro