Canonical Allele Identifier: CA345374718

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015857T>A (hg19) ; chr1:g.236852557T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852557T>A , CM000663.2:g.236852557T>A	GRCh38
NC_000001.10:g.237015857T>A , CM000663.1:g.237015857T>A	GRCh37
NC_000001.9:g.235082480T>A	NCBI36
NG_008959.1:g.62277T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1732T>A MANE Select	ENSP00000355536.5:p.Ser578Thr
ENST00000535889.6:c.1732T>A	ENSP00000441845.1:p.Ser578Thr
ENST00000650888.1:c.*774T>A	ENSP00000498393.1:n.*774T>A
ENST00000651455.1:c.*476T>A	ENSP00000498963.1:n.*476T>A
ENST00000674797.2:c.1384T>A	ENSP00000502299.2:p.Ser462Thr
ENST00000679569.1:n.2046T>A
ENST00000679842.1:c.1732T>A	ENSP00000506109.1:p.Ser578Thr
ENST00000680454.1:n.2176T>A
ENST00000681102.1:c.1552T>A	ENSP00000505600.1:p.Ser518Thr
ENST00000681177.1:c.1516-7276T>A	ENSP00000506327.1:n.1516-7276T>A
ENST00000681937.1:n.2148-7276T>A
ENST00000366576.3:c.394T>A	ENSP00000355535.3:p.Ser132Thr
ENST00000366577.9:c.1732T>A	ENSP00000355536.5:p.Ser578Thr
ENST00000463959.1:n.1751T>A
ENST00000535889.5:c.1732T>A	ENSP00000441845.1:p.Ser578Thr
NM_000254.2:c.1732T>A	NP_000245.2:p.Ser578Thr
NM_001291939.1:c.1732T>A	NP_001278868.1:p.Ser578Thr
NM_001291940.1:c.511T>A	NP_001278869.1:p.Ser171Thr
XM_005273141.3:c.1729T>A	XP_005273198.1:p.Ser577Thr
XM_006711769.2:c.1732T>A	XP_006711832.1:p.Ser578Thr
XM_006711770.1:c.796T>A	XP_006711833.1:p.Ser266Thr
XM_011544193.1:c.1732T>A	XP_011542495.1:p.Ser578Thr
XM_011544194.1:c.1900T>A	XP_011542496.1:p.Ser634Thr
XM_005273141.5:c.1729T>A	XP_005273198.1:p.Ser577Thr
XM_006711770.3:c.796T>A	XP_006711833.1:p.Ser266Thr
XM_011544194.3:c.1900T>A	XP_011542496.1:p.Ser634Thr
XM_017001329.2:c.1900T>A	XP_016856818.1:p.Ser634Thr
XM_017001330.2:c.1900T>A	XP_016856819.1:p.Ser634Thr
NM_001291940.2:c.511T>A	NP_001278869.1:p.Ser171Thr
NM_000254.3:c.1732T>A MANE Select	NP_000245.2:p.Ser578Thr