Canonical Allele Identifier: CA345374603

Gene: MTR

Linked Data

• gnomAD v4: 1-236852531-C-G
• MyVariant Identifiers: chr1:g.237015831C>G (hg19) ; chr1:g.236852531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852531C>G , CM000663.2:g.236852531C>G	GRCh38
NC_000001.10:g.237015831C>G , CM000663.1:g.237015831C>G	GRCh37
NC_000001.9:g.235082454C>G	NCBI36
NG_008959.1:g.62251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1706C>G MANE Select	ENSP00000355536.5:p.Pro569Arg
ENST00000535889.6:c.1706C>G	ENSP00000441845.1:p.Pro569Arg
ENST00000650888.1:c.*748C>G	ENSP00000498393.1:n.*748C>G
ENST00000651455.1:c.*450C>G	ENSP00000498963.1:n.*450C>G
ENST00000674797.2:c.1358C>G	ENSP00000502299.2:p.Pro453Arg
ENST00000679569.1:n.2020C>G
ENST00000679842.1:c.1706C>G	ENSP00000506109.1:p.Pro569Arg
ENST00000680454.1:n.2150C>G
ENST00000681102.1:c.1526C>G	ENSP00000505600.1:p.Pro509Arg
ENST00000681177.1:c.1516-7302C>G	ENSP00000506327.1:n.1516-7302C>G
ENST00000681937.1:n.2148-7302C>G
ENST00000366576.3:c.368C>G	ENSP00000355535.3:p.Pro123Arg
ENST00000366577.9:c.1706C>G	ENSP00000355536.5:p.Pro569Arg
ENST00000463959.1:n.1725C>G
ENST00000535889.5:c.1706C>G	ENSP00000441845.1:p.Pro569Arg
NM_000254.2:c.1706C>G	NP_000245.2:p.Pro569Arg
NM_001291939.1:c.1706C>G	NP_001278868.1:p.Pro569Arg
NM_001291940.1:c.485C>G	NP_001278869.1:p.Pro162Arg
XM_005273141.3:c.1703C>G	XP_005273198.1:p.Pro568Arg
XM_006711769.2:c.1706C>G	XP_006711832.1:p.Pro569Arg
XM_006711770.1:c.770C>G	XP_006711833.1:p.Pro257Arg
XM_011544193.1:c.1706C>G	XP_011542495.1:p.Pro569Arg
XM_011544194.1:c.1874C>G	XP_011542496.1:p.Pro625Arg
XM_005273141.5:c.1703C>G	XP_005273198.1:p.Pro568Arg
XM_006711770.3:c.770C>G	XP_006711833.1:p.Pro257Arg
XM_011544194.3:c.1874C>G	XP_011542496.1:p.Pro625Arg
XM_017001329.2:c.1874C>G	XP_016856818.1:p.Pro625Arg
XM_017001330.2:c.1874C>G	XP_016856819.1:p.Pro625Arg
NM_001291940.2:c.485C>G	NP_001278869.1:p.Pro162Arg
NM_000254.3:c.1706C>G MANE Select	NP_000245.2:p.Pro569Arg