Canonical Allele Identifier: CA404313550

Gene: TRMT1

Linked Data

• dbSNP Id: rs1333832734
• gnomAD v2: 19-13220777-G-C
• MyVariant Identifiers: chr19:g.13220777G>C (hg19) ; chr19:g.13109963G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13109963G>C , CM000681.2:g.13109963G>C	GRCh38
NC_000019.9:g.13220777G>C , CM000681.1:g.13220777G>C	GRCh37
NC_000019.8:g.13081777G>C	NCBI36
NG_054900.1:g.12605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357720.9:c.1058C>G MANE Select	ENSP00000350352.4:p.Ala353Gly
ENST00000221504.12:c.1020-125C>G	ENSP00000221504.7:n.1020-125C>G
ENST00000357720.8:c.1058C>G	ENSP00000350352.4:p.Ala353Gly
ENST00000437766.5:c.1058C>G	ENSP00000416149.1:p.Ala353Gly
ENST00000587487.5:c.416C>G	ENSP00000465370.1:p.Ala139Gly
ENST00000588511.5:n.1243C>G
ENST00000592062.5:c.1058C>G	ENSP00000466967.1:p.Ala353Gly
ENST00000593157.5:n.1087C>G
NM_001136035.2:c.1058C>G	NP_001129507.1:p.Ala353Gly
NM_001142554.1:c.1020-125C>G	NP_001136026.1:n.1020-125C>G
NM_017722.3:c.1058C>G	NP_060192.1:p.Ala353Gly
XM_005259983.1:c.1020-125C>G	XP_005260040.1:n.1020-125C>G
XM_006722793.2:c.416C>G	XP_006722856.1:p.Ala139Gly
XM_011528124.1:c.950C>G	XP_011526426.1:p.Ala317Gly
XM_011528125.1:c.416C>G	XP_011526427.1:p.Ala139Gly
XM_011528126.1:c.275C>G	XP_011526428.1:p.Ala92Gly
NM_001136035.3:c.1058C>G	NP_001129507.1:p.Ala353Gly
NM_001142554.2:c.1020-125C>G	NP_001136026.1:n.1020-125C>G
NM_001351760.1:c.1020-125C>G	NP_001338689.1:n.1020-125C>G
NM_001351761.1:c.950C>G	NP_001338690.1:p.Ala317Gly
NM_001351762.1:c.275C>G	NP_001338691.1:p.Ala92Gly
NM_017722.4:c.1058C>G	NP_060192.1:p.Ala353Gly
XM_024451587.1:c.416C>G	XP_024307355.1:p.Ala139Gly
XM_024451588.1:c.416C>G	XP_024307356.1:p.Ala139Gly
XM_024451589.1:c.416C>G	XP_024307357.1:p.Ala139Gly
XM_024451590.1:c.378-125C>G	XP_024307358.1:n.378-125C>G
XM_024451591.1:c.275C>G	XP_024307359.1:p.Ala92Gly
XM_024451592.1:c.275C>G	XP_024307360.1:p.Ala92Gly
XM_024451593.1:c.275C>G	XP_024307361.1:p.Ala92Gly
XR_002958328.1:n.1146-125C>G
XR_002958329.1:n.845-125C>G
NM_001136035.4:c.1058C>G MANE Select	NP_001129507.1:p.Ala353Gly
NM_001142554.3:c.1020-125C>G	NP_001136026.1:n.1020-125C>G
NM_001351760.2:c.1020-125C>G	NP_001338689.1:n.1020-125C>G
NM_001351761.2:c.950C>G	NP_001338690.1:p.Ala317Gly
NM_001351762.2:c.275C>G	NP_001338691.1:p.Ala92Gly
NM_017722.5:c.1058C>G	NP_060192.1:p.Ala353Gly