Canonical Allele Identifier: CA345384654

Gene: MTR

Linked Data

• dbSNP Id: rs1665949687
• gnomAD v4: 1-236885206-A-G
• MyVariant Identifiers: chr1:g.237048506A>G (hg19) ; chr1:g.236885206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885206A>G , CM000663.2:g.236885206A>G	GRCh38
NC_000001.10:g.237048506A>G , CM000663.1:g.237048506A>G	GRCh37
NC_000001.9:g.235115129A>G	NCBI36
NG_008959.1:g.94926A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2762A>G MANE Select	ENSP00000355536.5:p.Tyr921Cys
ENST00000535889.6:c.2609A>G	ENSP00000441845.1:p.Tyr870Cys
ENST00000650888.1:c.*1804A>G	ENSP00000498393.1:n.*1804A>G
ENST00000651455.1:c.*1506A>G	ENSP00000498963.1:n.*1506A>G
ENST00000674797.2:c.2414A>G	ENSP00000502299.2:p.Tyr805Cys
ENST00000679569.1:n.3076A>G
ENST00000679842.1:c.2573A>G	ENSP00000506109.1:p.Tyr858Cys
ENST00000680454.1:n.3206A>G
ENST00000681102.1:c.2582A>G	ENSP00000505600.1:p.Tyr861Cys
ENST00000681177.1:c.2324A>G	ENSP00000506327.1:p.Tyr775Cys
ENST00000681937.1:n.2956A>G
ENST00000366576.3:c.1424A>G	ENSP00000355535.3:p.Tyr475Cys
ENST00000366577.9:c.2762A>G	ENSP00000355536.5:p.Tyr921Cys
ENST00000535889.5:c.2609A>G	ENSP00000441845.1:p.Tyr870Cys
NM_000254.2:c.2762A>G	NP_000245.2:p.Tyr921Cys
NM_001291939.1:c.2609A>G	NP_001278868.1:p.Tyr870Cys
NM_001291940.1:c.1541A>G	NP_001278869.1:p.Tyr514Cys
XM_005273141.3:c.2759A>G	XP_005273198.1:p.Tyr920Cys
XM_006711769.2:c.2762A>G	XP_006711832.1:p.Tyr921Cys
XM_006711770.1:c.1826A>G	XP_006711833.1:p.Tyr609Cys
XM_011544193.1:c.2573A>G	XP_011542495.1:p.Tyr858Cys
XM_011544194.1:c.2930A>G	XP_011542496.1:p.Tyr977Cys
XM_005273141.5:c.2759A>G	XP_005273198.1:p.Tyr920Cys
XM_006711770.3:c.1826A>G	XP_006711833.1:p.Tyr609Cys
XM_011544194.3:c.2930A>G	XP_011542496.1:p.Tyr977Cys
XM_017001329.2:c.2777A>G	XP_016856818.1:p.Tyr926Cys
XM_017001330.2:c.2741A>G	XP_016856819.1:p.Tyr914Cys
NM_001291940.2:c.1541A>G	NP_001278869.1:p.Tyr514Cys
NM_000254.3:c.2762A>G MANE Select	NP_000245.2:p.Tyr921Cys