Canonical Allele Identifier: CA339833176

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313224C>G (hg19) ; chr1:g.39847552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847552C>G , CM000663.2:g.39847552C>G	GRCh38
NC_000001.10:g.40313224C>G , CM000663.1:g.40313224C>G	GRCh37
NC_000001.9:g.40085811C>G	NCBI36
NG_042822.1:g.40960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.924G>C MANE Select	ENSP00000321810.5:p.Lys308Asn
ENST00000648678.1:c.1816G>C	ENSP00000497805.1:n.1816G>C
ENST00000316891.9:c.924G>C	ENSP00000321810.5:p.Lys308Asn
ENST00000372818.5:c.924G>C	ENSP00000361905.1:p.Lys308Asn
ENST00000441669.6:c.678G>C	ENSP00000388333.2:p.Lys226Asn
ENST00000462797.5:c.924G>C	ENSP00000473773.1:p.Lys308Asn
ENST00000465417.5:n.113-255G>C
ENST00000467774.1:n.206G>C
ENST00000486825.6:c.829G>C
ENST00000489945.5:c.*342G>C	ENSP00000473745.1:n.*342G>C
ENST00000491865.5:n.164-255G>C
ENST00000492612.6:c.768G>C
ENST00000495175.6:c.*346G>C	ENSP00000474264.1:n.*346G>C
ENST00000537440.5:c.17-255G>C	ENSP00000437700.1:n.17-255G>C
ENST00000541099.5:c.-140-2912G>C	ENSP00000437896.1:n.-140-2912G>C
NM_001312691.1:c.924G>C	NP_001299620.1:p.Lys308Asn
NM_001312692.1:c.678G>C	NP_001299621.1:p.Lys226Asn
NM_017646.4:c.924G>C	NP_060116.2:p.Lys308Asn
NM_017646.5:c.924G>C	NP_060116.2:p.Lys308Asn
NR_132401.1:n.940G>C
NR_132402.1:n.798G>C
NR_132403.1:n.794G>C
NR_132404.1:n.794G>C
NR_132405.1:n.790G>C
NR_132406.1:n.686-255G>C
NR_132407.1:n.558G>C
NR_132408.1:n.554G>C
NR_132409.1:n.415G>C
NR_132410.1:n.446-255G>C
NR_132412.1:n.307-255G>C
NR_132413.1:n.195-2912G>C
NR_132414.1:n.195-5639G>C
NR_132415.1:n.1031G>C
XM_005270954.1:c.681G>C	XP_005271011.1:p.Lys227Asn
XM_006710706.1:c.501G>C	XP_006710769.1:p.Lys167Asn
XM_005270954.2:c.681G>C	XP_005271011.1:p.Lys227Asn
XR_946672.2:n.1024G>C
NM_017646.6:c.924G>C MANE Select	NP_060116.2:p.Lys308Asn