Canonical Allele Identifier: CA345374760

Gene: MTR

Linked Data

• gnomAD v4: 1-236852567-C-G
• MyVariant Identifiers: chr1:g.237015867C>G (hg19) ; chr1:g.236852567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852567C>G , CM000663.2:g.236852567C>G	GRCh38
NC_000001.10:g.237015867C>G , CM000663.1:g.237015867C>G	GRCh37
NC_000001.9:g.235082490C>G	NCBI36
NG_008959.1:g.62287C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1742C>G MANE Select	ENSP00000355536.5:p.Ser581Cys
ENST00000535889.6:c.1742C>G	ENSP00000441845.1:p.Ser581Cys
ENST00000650888.1:c.*784C>G	ENSP00000498393.1:n.*784C>G
ENST00000651455.1:c.*486C>G	ENSP00000498963.1:n.*486C>G
ENST00000674797.2:c.1394C>G	ENSP00000502299.2:p.Ser465Cys
ENST00000679569.1:n.2056C>G
ENST00000679842.1:c.1742C>G	ENSP00000506109.1:p.Ser581Cys
ENST00000680454.1:n.2186C>G
ENST00000681102.1:c.1562C>G	ENSP00000505600.1:p.Ser521Cys
ENST00000681177.1:c.1516-7266C>G	ENSP00000506327.1:n.1516-7266C>G
ENST00000681937.1:n.2148-7266C>G
ENST00000366576.3:c.404C>G	ENSP00000355535.3:p.Ser135Cys
ENST00000366577.9:c.1742C>G	ENSP00000355536.5:p.Ser581Cys
ENST00000463959.1:n.1761C>G
ENST00000535889.5:c.1742C>G	ENSP00000441845.1:p.Ser581Cys
NM_000254.2:c.1742C>G	NP_000245.2:p.Ser581Cys
NM_001291939.1:c.1742C>G	NP_001278868.1:p.Ser581Cys
NM_001291940.1:c.521C>G	NP_001278869.1:p.Ser174Cys
XM_005273141.3:c.1739C>G	XP_005273198.1:p.Ser580Cys
XM_006711769.2:c.1742C>G	XP_006711832.1:p.Ser581Cys
XM_006711770.1:c.806C>G	XP_006711833.1:p.Ser269Cys
XM_011544193.1:c.1742C>G	XP_011542495.1:p.Ser581Cys
XM_011544194.1:c.1910C>G	XP_011542496.1:p.Ser637Cys
XM_005273141.5:c.1739C>G	XP_005273198.1:p.Ser580Cys
XM_006711770.3:c.806C>G	XP_006711833.1:p.Ser269Cys
XM_011544194.3:c.1910C>G	XP_011542496.1:p.Ser637Cys
XM_017001329.2:c.1910C>G	XP_016856818.1:p.Ser637Cys
XM_017001330.2:c.1910C>G	XP_016856819.1:p.Ser637Cys
NM_001291940.2:c.521C>G	NP_001278869.1:p.Ser174Cys
NM_000254.3:c.1742C>G MANE Select	NP_000245.2:p.Ser581Cys