Canonical Allele Identifier: CA345384390

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048436G>C (hg19) ; chr1:g.236885136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885136G>C , CM000663.2:g.236885136G>C	GRCh38
NC_000001.10:g.237048436G>C , CM000663.1:g.237048436G>C	GRCh37
NC_000001.9:g.235115059G>C	NCBI36
NG_008959.1:g.94856G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2692G>C MANE Select	ENSP00000355536.5:p.Asp898His
ENST00000535889.6:c.2539G>C	ENSP00000441845.1:p.Asp847His
ENST00000650888.1:c.*1734G>C	ENSP00000498393.1:n.*1734G>C
ENST00000651455.1:c.*1436G>C	ENSP00000498963.1:n.*1436G>C
ENST00000674797.2:c.2344G>C	ENSP00000502299.2:p.Asp782His
ENST00000679569.1:n.3006G>C
ENST00000679842.1:c.2503G>C	ENSP00000506109.1:p.Asp835His
ENST00000680454.1:n.3136G>C
ENST00000681102.1:c.2512G>C	ENSP00000505600.1:p.Asp838His
ENST00000681177.1:c.2254G>C	ENSP00000506327.1:p.Asp752His
ENST00000681937.1:n.2886G>C
ENST00000366576.3:c.1354G>C	ENSP00000355535.3:p.Asp452His
ENST00000366577.9:c.2692G>C	ENSP00000355536.5:p.Asp898His
ENST00000535889.5:c.2539G>C	ENSP00000441845.1:p.Asp847His
NM_000254.2:c.2692G>C	NP_000245.2:p.Asp898His
NM_001291939.1:c.2539G>C	NP_001278868.1:p.Asp847His
NM_001291940.1:c.1471G>C	NP_001278869.1:p.Asp491His
XM_005273141.3:c.2689G>C	XP_005273198.1:p.Asp897His
XM_006711769.2:c.2692G>C	XP_006711832.1:p.Asp898His
XM_006711770.1:c.1756G>C	XP_006711833.1:p.Asp586His
XM_011544193.1:c.2503G>C	XP_011542495.1:p.Asp835His
XM_011544194.1:c.2860G>C	XP_011542496.1:p.Asp954His
XM_005273141.5:c.2689G>C	XP_005273198.1:p.Asp897His
XM_006711770.3:c.1756G>C	XP_006711833.1:p.Asp586His
XM_011544194.3:c.2860G>C	XP_011542496.1:p.Asp954His
XM_017001329.2:c.2707G>C	XP_016856818.1:p.Asp903His
XM_017001330.2:c.2671G>C	XP_016856819.1:p.Asp891His
NM_001291940.2:c.1471G>C	NP_001278869.1:p.Asp491His
NM_000254.3:c.2692G>C MANE Select	NP_000245.2:p.Asp898His