Canonical Allele Identifier: CA404313988

Gene: TRMT1

Linked Data

• gnomAD v4: 19-13110207-C-T
• MyVariant Identifiers: chr19:g.13221021C>T (hg19) ; chr19:g.13110207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13110207C>T , CM000681.2:g.13110207C>T	GRCh38
NC_000019.9:g.13221021C>T , CM000681.1:g.13221021C>T	GRCh37
NC_000019.8:g.13082021C>T	NCBI36
NG_054900.1:g.12361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357720.9:c.970G>A MANE Select	ENSP00000350352.4:p.Val324Ile
ENST00000221504.12:c.970G>A	ENSP00000221504.7:p.Val324Ile
ENST00000357720.8:c.970G>A	ENSP00000350352.4:p.Val324Ile
ENST00000437766.5:c.970G>A	ENSP00000416149.1:p.Val324Ile
ENST00000587487.5:c.328G>A	ENSP00000465370.1:p.Val110Ile
ENST00000587633.1:c.627G>A	ENSP00000466716.1:n.627G>A
ENST00000588511.5:n.1155G>A
ENST00000592062.5:c.970G>A	ENSP00000466967.1:p.Val324Ile
ENST00000592814.5:c.844G>A	ENSP00000467938.1:p.Val282Ile
ENST00000593157.5:n.999G>A
NM_001136035.2:c.970G>A	NP_001129507.1:p.Val324Ile
NM_001142554.1:c.970G>A	NP_001136026.1:p.Val324Ile
NM_017722.3:c.970G>A	NP_060192.1:p.Val324Ile
XM_005259983.1:c.970G>A	XP_005260040.1:p.Val324Ile
XM_006722793.2:c.328G>A	XP_006722856.1:p.Val110Ile
XM_011528124.1:c.862G>A	XP_011526426.1:p.Val288Ile
XM_011528125.1:c.328G>A	XP_011526427.1:p.Val110Ile
XM_011528126.1:c.187G>A	XP_011526428.1:p.Val63Ile
NM_001136035.3:c.970G>A	NP_001129507.1:p.Val324Ile
NM_001142554.2:c.970G>A	NP_001136026.1:p.Val324Ile
NM_001351760.1:c.970G>A	NP_001338689.1:p.Val324Ile
NM_001351761.1:c.862G>A	NP_001338690.1:p.Val288Ile
NM_001351762.1:c.187G>A	NP_001338691.1:p.Val63Ile
NM_017722.4:c.970G>A	NP_060192.1:p.Val324Ile
XM_024451587.1:c.328G>A	XP_024307355.1:p.Val110Ile
XM_024451588.1:c.328G>A	XP_024307356.1:p.Val110Ile
XM_024451589.1:c.328G>A	XP_024307357.1:p.Val110Ile
XM_024451590.1:c.328G>A	XP_024307358.1:p.Val110Ile
XM_024451591.1:c.187G>A	XP_024307359.1:p.Val63Ile
XM_024451592.1:c.187G>A	XP_024307360.1:p.Val63Ile
XM_024451593.1:c.187G>A	XP_024307361.1:p.Val63Ile
XR_002958328.1:n.1096G>A
XR_002958329.1:n.795G>A
NM_001136035.4:c.970G>A MANE Select	NP_001129507.1:p.Val324Ile
NM_001142554.3:c.970G>A	NP_001136026.1:p.Val324Ile
NM_001351760.2:c.970G>A	NP_001338689.1:p.Val324Ile
NM_001351761.2:c.862G>A	NP_001338690.1:p.Val288Ile
NM_001351762.2:c.187G>A	NP_001338691.1:p.Val63Ile
NM_017722.5:c.970G>A	NP_060192.1:p.Val324Ile