Canonical Allele Identifier: CA345384350

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048424T>C (hg19) ; chr1:g.236885124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885124T>C , CM000663.2:g.236885124T>C	GRCh38
NC_000001.10:g.237048424T>C , CM000663.1:g.237048424T>C	GRCh37
NC_000001.9:g.235115047T>C	NCBI36
NG_008959.1:g.94844T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2680T>C MANE Select	ENSP00000355536.5:p.Ser894Pro
ENST00000535889.6:c.2527T>C	ENSP00000441845.1:p.Ser843Pro
ENST00000650888.1:c.*1722T>C	ENSP00000498393.1:n.*1722T>C
ENST00000651455.1:c.*1424T>C	ENSP00000498963.1:n.*1424T>C
ENST00000674797.2:c.2332T>C	ENSP00000502299.2:p.Ser778Pro
ENST00000679569.1:n.2994T>C
ENST00000679842.1:c.2491T>C	ENSP00000506109.1:p.Ser831Pro
ENST00000680454.1:n.3124T>C
ENST00000681102.1:c.2500T>C	ENSP00000505600.1:p.Ser834Pro
ENST00000681177.1:c.2242T>C	ENSP00000506327.1:p.Ser748Pro
ENST00000681937.1:n.2874T>C
ENST00000366576.3:c.1342T>C	ENSP00000355535.3:p.Ser448Pro
ENST00000366577.9:c.2680T>C	ENSP00000355536.5:p.Ser894Pro
ENST00000535889.5:c.2527T>C	ENSP00000441845.1:p.Ser843Pro
NM_000254.2:c.2680T>C	NP_000245.2:p.Ser894Pro
NM_001291939.1:c.2527T>C	NP_001278868.1:p.Ser843Pro
NM_001291940.1:c.1459T>C	NP_001278869.1:p.Ser487Pro
XM_005273141.3:c.2677T>C	XP_005273198.1:p.Ser893Pro
XM_006711769.2:c.2680T>C	XP_006711832.1:p.Ser894Pro
XM_006711770.1:c.1744T>C	XP_006711833.1:p.Ser582Pro
XM_011544193.1:c.2491T>C	XP_011542495.1:p.Ser831Pro
XM_011544194.1:c.2848T>C	XP_011542496.1:p.Ser950Pro
XM_005273141.5:c.2677T>C	XP_005273198.1:p.Ser893Pro
XM_006711770.3:c.1744T>C	XP_006711833.1:p.Ser582Pro
XM_011544194.3:c.2848T>C	XP_011542496.1:p.Ser950Pro
XM_017001329.2:c.2695T>C	XP_016856818.1:p.Ser899Pro
XM_017001330.2:c.2659T>C	XP_016856819.1:p.Ser887Pro
NM_001291940.2:c.1459T>C	NP_001278869.1:p.Ser487Pro
NM_000254.3:c.2680T>C MANE Select	NP_000245.2:p.Ser894Pro