Canonical Allele Identifier: CA404314121

Gene: TRMT1

Linked Data

• MyVariant Identifiers: chr19:g.13221054G>C (hg19) ; chr19:g.13110240G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13110240G>C , CM000681.2:g.13110240G>C	GRCh38
NC_000019.9:g.13221054G>C , CM000681.1:g.13221054G>C	GRCh37
NC_000019.8:g.13082054G>C	NCBI36
NG_054900.1:g.12328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357720.9:c.937C>G MANE Select	ENSP00000350352.4:p.Leu313Val
ENST00000221504.12:c.937C>G	ENSP00000221504.7:p.Leu313Val
ENST00000357720.8:c.937C>G	ENSP00000350352.4:p.Leu313Val
ENST00000437766.5:c.937C>G	ENSP00000416149.1:p.Leu313Val
ENST00000587487.5:c.295C>G	ENSP00000465370.1:p.Leu99Val
ENST00000587633.1:c.594C>G	ENSP00000466716.1:n.594C>G
ENST00000588511.5:n.1122C>G
ENST00000592062.5:c.937C>G	ENSP00000466967.1:p.Leu313Val
ENST00000592814.5:c.811C>G	ENSP00000467938.1:p.Leu271Val
ENST00000593157.5:n.966C>G
NM_001136035.2:c.937C>G	NP_001129507.1:p.Leu313Val
NM_001142554.1:c.937C>G	NP_001136026.1:p.Leu313Val
NM_017722.3:c.937C>G	NP_060192.1:p.Leu313Val
XM_005259983.1:c.937C>G	XP_005260040.1:p.Leu313Val
XM_006722793.2:c.295C>G	XP_006722856.1:p.Leu99Val
XM_011528124.1:c.829C>G	XP_011526426.1:p.Leu277Val
XM_011528125.1:c.295C>G	XP_011526427.1:p.Leu99Val
XM_011528126.1:c.154C>G	XP_011526428.1:p.Leu52Val
NM_001136035.3:c.937C>G	NP_001129507.1:p.Leu313Val
NM_001142554.2:c.937C>G	NP_001136026.1:p.Leu313Val
NM_001351760.1:c.937C>G	NP_001338689.1:p.Leu313Val
NM_001351761.1:c.829C>G	NP_001338690.1:p.Leu277Val
NM_001351762.1:c.154C>G	NP_001338691.1:p.Leu52Val
NM_017722.4:c.937C>G	NP_060192.1:p.Leu313Val
XM_024451587.1:c.295C>G	XP_024307355.1:p.Leu99Val
XM_024451588.1:c.295C>G	XP_024307356.1:p.Leu99Val
XM_024451589.1:c.295C>G	XP_024307357.1:p.Leu99Val
XM_024451590.1:c.295C>G	XP_024307358.1:p.Leu99Val
XM_024451591.1:c.154C>G	XP_024307359.1:p.Leu52Val
XM_024451592.1:c.154C>G	XP_024307360.1:p.Leu52Val
XM_024451593.1:c.154C>G	XP_024307361.1:p.Leu52Val
XR_002958328.1:n.1063C>G
XR_002958329.1:n.762C>G
NM_001136035.4:c.937C>G MANE Select	NP_001129507.1:p.Leu313Val
NM_001142554.3:c.937C>G	NP_001136026.1:p.Leu313Val
NM_001351760.2:c.937C>G	NP_001338689.1:p.Leu313Val
NM_001351761.2:c.829C>G	NP_001338690.1:p.Leu277Val
NM_001351762.2:c.154C>G	NP_001338691.1:p.Leu52Val
NM_017722.5:c.937C>G	NP_060192.1:p.Leu313Val