Canonical Allele Identifier: CA305531815

Gene: TRMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13115337G>A , CM000681.2:g.13115337G>A	GRCh38
NC_000019.9:g.13226151G>A , CM000681.1:g.13226151G>A	GRCh37
NC_000019.8:g.13087151G>A	NCBI36
NG_054900.1:g.7231C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001136035.4:c.583C>T MANE Select	NP_001129507.1:p.Arg195Trp
ENST00000357720.9:c.583C>T MANE Select	ENSP00000350352.4:p.Arg195Trp
NM_001136035.2:c.583C>T	NP_001129507.1:p.Arg195Trp
NM_001136035.3:c.583C>T	NP_001129507.1:p.Arg195Trp
NM_001142554.1:c.583C>T	NP_001136026.1:p.Arg195Trp
NM_001142554.2:c.583C>T	NP_001136026.1:p.Arg195Trp
NM_001142554.3:c.583C>T	NP_001136026.1:p.Arg195Trp
NM_001351760.1:c.583C>T	NP_001338689.1:p.Arg195Trp
NM_001351760.2:c.583C>T	NP_001338689.1:p.Arg195Trp
NM_001351761.1:c.475C>T	NP_001338690.1:p.Arg159Trp
NM_001351761.2:c.475C>T	NP_001338690.1:p.Arg159Trp
NM_001351762.1:c.-188C>T	NP_001338691.1:n.-188C>T
NM_001351762.2:c.-188C>T	NP_001338691.1:n.-188C>T
NM_017722.3:c.583C>T	NP_060192.1:p.Arg195Trp
NM_017722.4:c.583C>T	NP_060192.1:p.Arg195Trp
NM_017722.5:c.583C>T	NP_060192.1:p.Arg195Trp
ENST00000221504.12:c.583C>T	ENSP00000221504.7:p.Arg195Trp
ENST00000357720.8:c.583C>T	ENSP00000350352.4:p.Arg195Trp
ENST00000437766.5:c.583C>T	ENSP00000416149.1:p.Arg195Trp
ENST00000587487.5:c.-60C>T	ENSP00000465370.1:n.-60C>T
ENST00000587633.1:c.240C>T	ENSP00000466716.1:p.Ala80=
ENST00000588511.5:n.781C>T
ENST00000591717.5:c.*66C>T	ENSP00000466966.1:n.*66C>T
ENST00000592062.5:c.583C>T	ENSP00000466967.1:p.Arg195Trp
ENST00000592814.5:c.583C>T	ENSP00000467938.1:p.Arg195Trp
ENST00000593157.5:n.612C>T
ENST00000593257.1:n.293C>T
XM_005259983.1:c.583C>T	XP_005260040.1:p.Arg195Trp
XM_006722793.2:c.-60C>T	XP_006722856.1:n.-60C>T
XM_011528124.1:c.475C>T	XP_011526426.1:p.Arg159Trp
XM_011528125.1:c.-60C>T	XP_011526427.1:n.-60C>T
XM_011528126.1:c.-188C>T	XP_011526428.1:n.-188C>T
XM_024451587.1:c.-60C>T	XP_024307355.1:n.-60C>T
XM_024451588.1:c.-60C>T	XP_024307356.1:n.-60C>T
XM_024451589.1:c.-60C>T	XP_024307357.1:n.-60C>T
XM_024451590.1:c.-60C>T	XP_024307358.1:n.-60C>T
XM_024451591.1:c.-188C>T	XP_024307359.1:n.-188C>T
XM_024451592.1:c.-188C>T	XP_024307360.1:n.-188C>T
XM_024451593.1:c.-188C>T	XP_024307361.1:n.-188C>T
XR_002958328.1:n.709C>T
XR_002958329.1:n.408C>T