Canonical Allele Identifier: CA345384625

Gene: MTR

Linked Data

• gnomAD v4: 1-236885201-C-A
• MyVariant Identifiers: chr1:g.237048501C>A (hg19) ; chr1:g.236885201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885201C>A , CM000663.2:g.236885201C>A	GRCh38
NC_000001.10:g.237048501C>A , CM000663.1:g.237048501C>A	GRCh37
NC_000001.9:g.235115124C>A	NCBI36
NG_008959.1:g.94921C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2757C>A MANE Select	ENSP00000355536.5:p.Asp919Glu
ENST00000535889.6:c.2604C>A	ENSP00000441845.1:p.Asp868Glu
ENST00000650888.1:c.*1799C>A	ENSP00000498393.1:n.*1799C>A
ENST00000651455.1:c.*1501C>A	ENSP00000498963.1:n.*1501C>A
ENST00000674797.2:c.2409C>A	ENSP00000502299.2:p.Asp803Glu
ENST00000679569.1:n.3071C>A
ENST00000679842.1:c.2568C>A	ENSP00000506109.1:p.Asp856Glu
ENST00000680454.1:n.3201C>A
ENST00000681102.1:c.2577C>A	ENSP00000505600.1:p.Asp859Glu
ENST00000681177.1:c.2319C>A	ENSP00000506327.1:p.Asp773Glu
ENST00000681937.1:n.2951C>A
ENST00000366576.3:c.1419C>A	ENSP00000355535.3:p.Asp473Glu
ENST00000366577.9:c.2757C>A	ENSP00000355536.5:p.Asp919Glu
ENST00000535889.5:c.2604C>A	ENSP00000441845.1:p.Asp868Glu
NM_000254.2:c.2757C>A	NP_000245.2:p.Asp919Glu
NM_001291939.1:c.2604C>A	NP_001278868.1:p.Asp868Glu
NM_001291940.1:c.1536C>A	NP_001278869.1:p.Asp512Glu
XM_005273141.3:c.2754C>A	XP_005273198.1:p.Asp918Glu
XM_006711769.2:c.2757C>A	XP_006711832.1:p.Asp919Glu
XM_006711770.1:c.1821C>A	XP_006711833.1:p.Asp607Glu
XM_011544193.1:c.2568C>A	XP_011542495.1:p.Asp856Glu
XM_011544194.1:c.2925C>A	XP_011542496.1:p.Asp975Glu
XM_005273141.5:c.2754C>A	XP_005273198.1:p.Asp918Glu
XM_006711770.3:c.1821C>A	XP_006711833.1:p.Asp607Glu
XM_011544194.3:c.2925C>A	XP_011542496.1:p.Asp975Glu
XM_017001329.2:c.2772C>A	XP_016856818.1:p.Asp924Glu
XM_017001330.2:c.2736C>A	XP_016856819.1:p.Asp912Glu
NM_001291940.2:c.1536C>A	NP_001278869.1:p.Asp512Glu
NM_000254.3:c.2757C>A MANE Select	NP_000245.2:p.Asp919Glu