Canonical Allele Identifier: CA345383313

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237044132T>C (hg19) ; chr1:g.236880832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880832T>C , CM000663.2:g.236880832T>C	GRCh38
NC_000001.10:g.237044132T>C , CM000663.1:g.237044132T>C	GRCh37
NC_000001.9:g.235110755T>C	NCBI36
NG_008959.1:g.90552T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2672T>C MANE Select	ENSP00000355536.5:p.Val891Ala
ENST00000535889.6:c.2519T>C	ENSP00000441845.1:p.Val840Ala
ENST00000650888.1:c.*1714T>C	ENSP00000498393.1:n.*1714T>C
ENST00000651455.1:c.*1416T>C	ENSP00000498963.1:n.*1416T>C
ENST00000674797.2:c.2324T>C	ENSP00000502299.2:p.Val775Ala
ENST00000679569.1:n.2986T>C
ENST00000679842.1:c.2483T>C	ENSP00000506109.1:p.Val828Ala
ENST00000680454.1:n.3116T>C
ENST00000681102.1:c.2492T>C	ENSP00000505600.1:p.Val831Ala
ENST00000681177.1:c.2234T>C	ENSP00000506327.1:p.Val745Ala
ENST00000681937.1:n.2866T>C
ENST00000366576.3:c.1334T>C	ENSP00000355535.3:p.Val445Ala
ENST00000366577.9:c.2672T>C	ENSP00000355536.5:p.Val891Ala
ENST00000535889.5:c.2519T>C	ENSP00000441845.1:p.Val840Ala
NM_000254.2:c.2672T>C	NP_000245.2:p.Val891Ala
NM_001291939.1:c.2519T>C	NP_001278868.1:p.Val840Ala
NM_001291940.1:c.1451T>C	NP_001278869.1:p.Val484Ala
XM_005273141.3:c.2669T>C	XP_005273198.1:p.Val890Ala
XM_006711769.2:c.2672T>C	XP_006711832.1:p.Val891Ala
XM_006711770.1:c.1736T>C	XP_006711833.1:p.Val579Ala
XM_011544193.1:c.2483T>C	XP_011542495.1:p.Val828Ala
XM_011544194.1:c.2840T>C	XP_011542496.1:p.Val947Ala
XM_005273141.5:c.2669T>C	XP_005273198.1:p.Val890Ala
XM_006711770.3:c.1736T>C	XP_006711833.1:p.Val579Ala
XM_011544194.3:c.2840T>C	XP_011542496.1:p.Val947Ala
XM_017001329.2:c.2687T>C	XP_016856818.1:p.Val896Ala
XM_017001330.2:c.2651T>C	XP_016856819.1:p.Val884Ala
NM_001291940.2:c.1451T>C	NP_001278869.1:p.Val484Ala
NM_000254.3:c.2672T>C MANE Select	NP_000245.2:p.Val891Ala