Canonical Allele Identifier: CA345383337

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237044135T>C (hg19) ; chr1:g.236880835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880835T>C , CM000663.2:g.236880835T>C	GRCh38
NC_000001.10:g.237044135T>C , CM000663.1:g.237044135T>C	GRCh37
NC_000001.9:g.235110758T>C	NCBI36
NG_008959.1:g.90555T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2675T>C MANE Select	ENSP00000355536.5:p.Val892Ala
ENST00000535889.6:c.2522T>C	ENSP00000441845.1:p.Val841Ala
ENST00000650888.1:c.*1717T>C	ENSP00000498393.1:n.*1717T>C
ENST00000651455.1:c.*1419T>C	ENSP00000498963.1:n.*1419T>C
ENST00000674797.2:c.2327T>C	ENSP00000502299.2:p.Val776Ala
ENST00000679569.1:n.2989T>C
ENST00000679842.1:c.2486T>C	ENSP00000506109.1:p.Val829Ala
ENST00000680454.1:n.3119T>C
ENST00000681102.1:c.2495T>C	ENSP00000505600.1:p.Val832Ala
ENST00000681177.1:c.2237T>C	ENSP00000506327.1:p.Val746Ala
ENST00000681937.1:n.2869T>C
ENST00000366576.3:c.1337T>C	ENSP00000355535.3:p.Val446Ala
ENST00000366577.9:c.2675T>C	ENSP00000355536.5:p.Val892Ala
ENST00000535889.5:c.2522T>C	ENSP00000441845.1:p.Val841Ala
NM_000254.2:c.2675T>C	NP_000245.2:p.Val892Ala
NM_001291939.1:c.2522T>C	NP_001278868.1:p.Val841Ala
NM_001291940.1:c.1454T>C	NP_001278869.1:p.Val485Ala
XM_005273141.3:c.2672T>C	XP_005273198.1:p.Val891Ala
XM_006711769.2:c.2675T>C	XP_006711832.1:p.Val892Ala
XM_006711770.1:c.1739T>C	XP_006711833.1:p.Val580Ala
XM_011544193.1:c.2486T>C	XP_011542495.1:p.Val829Ala
XM_011544194.1:c.2843T>C	XP_011542496.1:p.Val948Ala
XM_005273141.5:c.2672T>C	XP_005273198.1:p.Val891Ala
XM_006711770.3:c.1739T>C	XP_006711833.1:p.Val580Ala
XM_011544194.3:c.2843T>C	XP_011542496.1:p.Val948Ala
XM_017001329.2:c.2690T>C	XP_016856818.1:p.Val897Ala
XM_017001330.2:c.2654T>C	XP_016856819.1:p.Val885Ala
NM_001291940.2:c.1454T>C	NP_001278869.1:p.Val485Ala
NM_000254.3:c.2675T>C MANE Select	NP_000245.2:p.Val892Ala