Canonical Allele Identifier: CA345374848

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015890G>C (hg19) ; chr1:g.236852590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852590G>C , CM000663.2:g.236852590G>C	GRCh38
NC_000001.10:g.237015890G>C , CM000663.1:g.237015890G>C	GRCh37
NC_000001.9:g.235082513G>C	NCBI36
NG_008959.1:g.62310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1765G>C MANE Select	ENSP00000355536.5:p.Ala589Pro
ENST00000535889.6:c.1765G>C	ENSP00000441845.1:p.Ala589Pro
ENST00000650888.1:c.*807G>C	ENSP00000498393.1:n.*807G>C
ENST00000651455.1:c.*509G>C	ENSP00000498963.1:n.*509G>C
ENST00000674797.2:c.1417G>C	ENSP00000502299.2:p.Ala473Pro
ENST00000679569.1:n.2079G>C
ENST00000679842.1:c.1765G>C	ENSP00000506109.1:p.Ala589Pro
ENST00000680454.1:n.2209G>C
ENST00000681102.1:c.1585G>C	ENSP00000505600.1:p.Ala529Pro
ENST00000681177.1:c.1516-7243G>C	ENSP00000506327.1:n.1516-7243G>C
ENST00000681937.1:n.2148-7243G>C
ENST00000366576.3:c.427G>C	ENSP00000355535.3:p.Ala143Pro
ENST00000366577.9:c.1765G>C	ENSP00000355536.5:p.Ala589Pro
ENST00000463959.1:n.1784G>C
ENST00000535889.5:c.1765G>C	ENSP00000441845.1:p.Ala589Pro
NM_000254.2:c.1765G>C	NP_000245.2:p.Ala589Pro
NM_001291939.1:c.1765G>C	NP_001278868.1:p.Ala589Pro
NM_001291940.1:c.544G>C	NP_001278869.1:p.Ala182Pro
XM_005273141.3:c.1762G>C	XP_005273198.1:p.Ala588Pro
XM_006711769.2:c.1765G>C	XP_006711832.1:p.Ala589Pro
XM_006711770.1:c.829G>C	XP_006711833.1:p.Ala277Pro
XM_011544193.1:c.1765G>C	XP_011542495.1:p.Ala589Pro
XM_011544194.1:c.1933G>C	XP_011542496.1:p.Ala645Pro
XM_005273141.5:c.1762G>C	XP_005273198.1:p.Ala588Pro
XM_006711770.3:c.829G>C	XP_006711833.1:p.Ala277Pro
XM_011544194.3:c.1933G>C	XP_011542496.1:p.Ala645Pro
XM_017001329.2:c.1933G>C	XP_016856818.1:p.Ala645Pro
XM_017001330.2:c.1933G>C	XP_016856819.1:p.Ala645Pro
NM_001291940.2:c.544G>C	NP_001278869.1:p.Ala182Pro
NM_000254.3:c.1765G>C MANE Select	NP_000245.2:p.Ala589Pro