Canonical Allele Identifier: CA345384430

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048445C>G (hg19) ; chr1:g.236885145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885145C>G , CM000663.2:g.236885145C>G	GRCh38
NC_000001.10:g.237048445C>G , CM000663.1:g.237048445C>G	GRCh37
NC_000001.9:g.235115068C>G	NCBI36
NG_008959.1:g.94865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2701C>G MANE Select	ENSP00000355536.5:p.Leu901Val
ENST00000535889.6:c.2548C>G	ENSP00000441845.1:p.Leu850Val
ENST00000650888.1:c.*1743C>G	ENSP00000498393.1:n.*1743C>G
ENST00000651455.1:c.*1445C>G	ENSP00000498963.1:n.*1445C>G
ENST00000674797.2:c.2353C>G	ENSP00000502299.2:p.Leu785Val
ENST00000679569.1:n.3015C>G
ENST00000679842.1:c.2512C>G	ENSP00000506109.1:p.Leu838Val
ENST00000680454.1:n.3145C>G
ENST00000681102.1:c.2521C>G	ENSP00000505600.1:p.Leu841Val
ENST00000681177.1:c.2263C>G	ENSP00000506327.1:p.Leu755Val
ENST00000681937.1:n.2895C>G
ENST00000366576.3:c.1363C>G	ENSP00000355535.3:p.Leu455Val
ENST00000366577.9:c.2701C>G	ENSP00000355536.5:p.Leu901Val
ENST00000535889.5:c.2548C>G	ENSP00000441845.1:p.Leu850Val
NM_000254.2:c.2701C>G	NP_000245.2:p.Leu901Val
NM_001291939.1:c.2548C>G	NP_001278868.1:p.Leu850Val
NM_001291940.1:c.1480C>G	NP_001278869.1:p.Leu494Val
XM_005273141.3:c.2698C>G	XP_005273198.1:p.Leu900Val
XM_006711769.2:c.2701C>G	XP_006711832.1:p.Leu901Val
XM_006711770.1:c.1765C>G	XP_006711833.1:p.Leu589Val
XM_011544193.1:c.2512C>G	XP_011542495.1:p.Leu838Val
XM_011544194.1:c.2869C>G	XP_011542496.1:p.Leu957Val
XM_005273141.5:c.2698C>G	XP_005273198.1:p.Leu900Val
XM_006711770.3:c.1765C>G	XP_006711833.1:p.Leu589Val
XM_011544194.3:c.2869C>G	XP_011542496.1:p.Leu957Val
XM_017001329.2:c.2716C>G	XP_016856818.1:p.Leu906Val
XM_017001330.2:c.2680C>G	XP_016856819.1:p.Leu894Val
NM_001291940.2:c.1480C>G	NP_001278869.1:p.Leu494Val
NM_000254.3:c.2701C>G MANE Select	NP_000245.2:p.Leu901Val