Canonical Allele Identifier: CA404314136

Gene: TRMT1

Linked Data

• gnomAD v4: 19-13110245-A-G
• MyVariant Identifiers: chr19:g.13221059A>G (hg19) ; chr19:g.13110245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13110245A>G , CM000681.2:g.13110245A>G	GRCh38
NC_000019.9:g.13221059A>G , CM000681.1:g.13221059A>G	GRCh37
NC_000019.8:g.13082059A>G	NCBI36
NG_054900.1:g.12323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357720.9:c.932T>C MANE Select	ENSP00000350352.4:p.Val311Ala
ENST00000221504.12:c.932T>C	ENSP00000221504.7:p.Val311Ala
ENST00000357720.8:c.932T>C	ENSP00000350352.4:p.Val311Ala
ENST00000437766.5:c.932T>C	ENSP00000416149.1:p.Val311Ala
ENST00000587487.5:c.290T>C	ENSP00000465370.1:p.Val97Ala
ENST00000587633.1:c.589T>C	ENSP00000466716.1:n.589T>C
ENST00000588511.5:n.1117T>C
ENST00000592062.5:c.932T>C	ENSP00000466967.1:p.Val311Ala
ENST00000592814.5:c.806T>C	ENSP00000467938.1:p.Val269Ala
ENST00000593157.5:n.961T>C
NM_001136035.2:c.932T>C	NP_001129507.1:p.Val311Ala
NM_001142554.1:c.932T>C	NP_001136026.1:p.Val311Ala
NM_017722.3:c.932T>C	NP_060192.1:p.Val311Ala
XM_005259983.1:c.932T>C	XP_005260040.1:p.Val311Ala
XM_006722793.2:c.290T>C	XP_006722856.1:p.Val97Ala
XM_011528124.1:c.824T>C	XP_011526426.1:p.Val275Ala
XM_011528125.1:c.290T>C	XP_011526427.1:p.Val97Ala
XM_011528126.1:c.149T>C	XP_011526428.1:p.Val50Ala
NM_001136035.3:c.932T>C	NP_001129507.1:p.Val311Ala
NM_001142554.2:c.932T>C	NP_001136026.1:p.Val311Ala
NM_001351760.1:c.932T>C	NP_001338689.1:p.Val311Ala
NM_001351761.1:c.824T>C	NP_001338690.1:p.Val275Ala
NM_001351762.1:c.149T>C	NP_001338691.1:p.Val50Ala
NM_017722.4:c.932T>C	NP_060192.1:p.Val311Ala
XM_024451587.1:c.290T>C	XP_024307355.1:p.Val97Ala
XM_024451588.1:c.290T>C	XP_024307356.1:p.Val97Ala
XM_024451589.1:c.290T>C	XP_024307357.1:p.Val97Ala
XM_024451590.1:c.290T>C	XP_024307358.1:p.Val97Ala
XM_024451591.1:c.149T>C	XP_024307359.1:p.Val50Ala
XM_024451592.1:c.149T>C	XP_024307360.1:p.Val50Ala
XM_024451593.1:c.149T>C	XP_024307361.1:p.Val50Ala
XR_002958328.1:n.1058T>C
XR_002958329.1:n.757T>C
NM_001136035.4:c.932T>C MANE Select	NP_001129507.1:p.Val311Ala
NM_001142554.3:c.932T>C	NP_001136026.1:p.Val311Ala
NM_001351760.2:c.932T>C	NP_001338689.1:p.Val311Ala
NM_001351761.2:c.824T>C	NP_001338690.1:p.Val275Ala
NM_001351762.2:c.149T>C	NP_001338691.1:p.Val50Ala
NM_017722.5:c.932T>C	NP_060192.1:p.Val311Ala