Canonical Allele Identifier: CA345391682

Gene: MTR

Linked Data

• gnomAD v4: 1-236829236-C-T
• MyVariant Identifiers: chr1:g.236992536C>T (hg19) ; chr1:g.236829236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829236C>T , CM000663.2:g.236829236C>T	GRCh38
NC_000001.10:g.236992536C>T , CM000663.1:g.236992536C>T	GRCh37
NC_000001.9:g.235059159C>T	NCBI36
NG_008959.1:g.38956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1043C>T MANE Select	ENSP00000355536.5:p.Ala348Val
ENST00000535889.6:c.1043C>T	ENSP00000441845.1:p.Ala348Val
ENST00000650888.1:c.*85C>T	ENSP00000498393.1:n.*85C>T
ENST00000651455.1:c.1043C>T	ENSP00000498963.1:p.Ala348Val
ENST00000674797.2:c.695C>T	ENSP00000502299.2:p.Ala232Val
ENST00000679569.1:n.1357C>T
ENST00000679842.1:c.1043C>T	ENSP00000506109.1:p.Ala348Val
ENST00000680454.1:n.1487C>T
ENST00000681102.1:c.1043C>T	ENSP00000505600.1:p.Ala348Val
ENST00000681177.1:c.1043C>T	ENSP00000506327.1:p.Ala348Val
ENST00000681937.1:n.1675C>T
ENST00000366577.9:c.1043C>T	ENSP00000355536.5:p.Ala348Val
ENST00000463959.1:n.1062C>T
ENST00000535889.5:c.1043C>T	ENSP00000441845.1:p.Ala348Val
NM_000254.2:c.1043C>T	NP_000245.2:p.Ala348Val
NM_001291939.1:c.1043C>T	NP_001278868.1:p.Ala348Val
NM_001291940.1:c.-66C>T	NP_001278869.1:n.-66C>T
XM_005273141.3:c.1040C>T	XP_005273198.1:p.Ala347Val
XM_006711769.2:c.1043C>T	XP_006711832.1:p.Ala348Val
XM_006711770.1:c.107C>T	XP_006711833.1:p.Ala36Val
XM_011544193.1:c.1043C>T	XP_011542495.1:p.Ala348Val
XM_011544194.1:c.1211C>T	XP_011542496.1:p.Ala404Val
XM_005273141.5:c.1040C>T	XP_005273198.1:p.Ala347Val
XM_006711770.3:c.107C>T	XP_006711833.1:p.Ala36Val
XM_011544194.3:c.1211C>T	XP_011542496.1:p.Ala404Val
XM_017001329.2:c.1211C>T	XP_016856818.1:p.Ala404Val
XM_017001330.2:c.1211C>T	XP_016856819.1:p.Ala404Val
NM_001291940.2:c.-66C>T	NP_001278869.1:n.-66C>T
NM_000254.3:c.1043C>T MANE Select	NP_000245.2:p.Ala348Val