Canonical Allele Identifier: CA423816455

Gene: MTR

Linked Data

• gnomAD v4: 1-236885216-C-A
• MyVariant Identifiers: chr1:g.237048516C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885216C>A , CM000663.2:g.236885216C>A	GRCh38
NC_000001.10:g.237048516C>A , CM000663.1:g.237048516C>A	GRCh37
NC_000001.9:g.235115139C>A	NCBI36
NG_008959.1:g.94936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2772C>A MANE Select	ENSP00000355536.5:p.Leu924=
ENST00000535889.6:c.2619C>A	ENSP00000441845.1:p.Leu873=
ENST00000650888.1:c.*1814C>A	ENSP00000498393.1:n.*1814C>A
ENST00000651455.1:c.*1516C>A	ENSP00000498963.1:n.*1516C>A
ENST00000674797.2:c.2424C>A	ENSP00000502299.2:p.Leu808=
ENST00000679569.1:n.3086C>A
ENST00000679842.1:c.2583C>A	ENSP00000506109.1:p.Leu861=
ENST00000680454.1:n.3216C>A
ENST00000681102.1:c.2592C>A	ENSP00000505600.1:p.Leu864=
ENST00000681177.1:c.2334C>A	ENSP00000506327.1:p.Leu778=
ENST00000681937.1:n.2966C>A
ENST00000366576.3:c.1434C>A	ENSP00000355535.3:p.Leu478=
ENST00000366577.9:c.2772C>A	ENSP00000355536.5:p.Leu924=
ENST00000535889.5:c.2619C>A	ENSP00000441845.1:p.Leu873=
NM_000254.2:c.2772C>A	NP_000245.2:p.Leu924=
NM_001291939.1:c.2619C>A	NP_001278868.1:p.Leu873=
NM_001291940.1:c.1551C>A	NP_001278869.1:p.Leu517=
XM_005273141.3:c.2769C>A	XP_005273198.1:p.Leu923=
XM_006711769.2:c.2772C>A	XP_006711832.1:p.Leu924=
XM_006711770.1:c.1836C>A	XP_006711833.1:p.Leu612=
XM_011544193.1:c.2583C>A	XP_011542495.1:p.Leu861=
XM_011544194.1:c.2940C>A	XP_011542496.1:p.Leu980=
XM_005273141.5:c.2769C>A	XP_005273198.1:p.Leu923=
XM_006711770.3:c.1836C>A	XP_006711833.1:p.Leu612=
XM_011544194.3:c.2940C>A	XP_011542496.1:p.Leu980=
XM_017001329.2:c.2787C>A	XP_016856818.1:p.Leu929=
XM_017001330.2:c.2751C>A	XP_016856819.1:p.Leu917=
NM_001291940.2:c.1551C>A	NP_001278869.1:p.Leu517=
NM_000254.3:c.2772C>A MANE Select	NP_000245.2:p.Leu924=