Canonical Allele Identifier: CA733250881

Gene: MTR

Linked Data

• dbSNP Id: rs1289892727
• gnomAD v3: 1-236829057-G-T
• gnomAD v4: 1-236829057-G-T
• MyVariant Identifiers: chr1:g.236992357G>T (hg19) ; chr1:g.236829057G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829057G>T , CM000663.2:g.236829057G>T	GRCh38
NC_000001.10:g.236992357G>T , CM000663.1:g.236992357G>T	GRCh37
NC_000001.9:g.235058980G>T	NCBI36
NG_008959.1:g.38777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.996-132G>T MANE Select	ENSP00000355536.5:n.996-132G>T
ENST00000535889.6:c.996-132G>T	ENSP00000441845.1:n.996-132G>T
ENST00000650888.1:c.*38-132G>T	ENSP00000498393.1:n.*38-132G>T
ENST00000651455.1:c.996-132G>T	ENSP00000498963.1:n.996-132G>T
ENST00000674797.2:c.648-132G>T	ENSP00000502299.2:n.648-132G>T
ENST00000679569.1:n.1310-132G>T
ENST00000679842.1:c.996-132G>T	ENSP00000506109.1:n.996-132G>T
ENST00000680454.1:n.1440-132G>T
ENST00000681102.1:c.996-132G>T	ENSP00000505600.1:n.996-132G>T
ENST00000681177.1:c.996-132G>T	ENSP00000506327.1:n.996-132G>T
ENST00000681937.1:n.1628-132G>T
ENST00000366577.9:c.996-132G>T	ENSP00000355536.5:n.996-132G>T
ENST00000463959.1:n.1015-132G>T
ENST00000535889.5:c.996-132G>T	ENSP00000441845.1:n.996-132G>T
NM_000254.2:c.996-132G>T	NP_000245.2:n.996-132G>T
NM_001291939.1:c.996-132G>T	NP_001278868.1:n.996-132G>T
NM_001291940.1:c.-113-132G>T	NP_001278869.1:n.-113-132G>T
XM_005273141.3:c.993-132G>T	XP_005273198.1:n.993-132G>T
XM_006711769.2:c.996-132G>T	XP_006711832.1:n.996-132G>T
XM_006711770.1:c.60-132G>T	XP_006711833.1:n.60-132G>T
XM_011544193.1:c.996-132G>T	XP_011542495.1:n.996-132G>T
XM_011544194.1:c.1164-132G>T	XP_011542496.1:n.1164-132G>T
XM_005273141.5:c.993-132G>T	XP_005273198.1:n.993-132G>T
XM_006711770.3:c.60-132G>T	XP_006711833.1:n.60-132G>T
XM_011544194.3:c.1164-132G>T	XP_011542496.1:n.1164-132G>T
XM_017001329.2:c.1164-132G>T	XP_016856818.1:n.1164-132G>T
XM_017001330.2:c.1164-132G>T	XP_016856819.1:n.1164-132G>T
NM_001291940.2:c.-113-132G>T	NP_001278869.1:n.-113-132G>T
NM_000254.3:c.996-132G>T MANE Select	NP_000245.2:n.996-132G>T