Canonical Allele Identifier: CA345374980

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015937G>T (hg19) ; chr1:g.236852637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852637G>T , CM000663.2:g.236852637G>T	GRCh38
NC_000001.10:g.237015937G>T , CM000663.1:g.237015937G>T	GRCh37
NC_000001.9:g.235082560G>T	NCBI36
NG_008959.1:g.62357G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1812G>T MANE Select	ENSP00000355536.5:p.Lys604Asn
ENST00000535889.6:c.1812G>T	ENSP00000441845.1:p.Lys604Asn
ENST00000650888.1:c.*854G>T	ENSP00000498393.1:n.*854G>T
ENST00000651455.1:c.*556G>T	ENSP00000498963.1:n.*556G>T
ENST00000674797.2:c.1464G>T	ENSP00000502299.2:p.Lys488Asn
ENST00000679569.1:n.2126G>T
ENST00000679842.1:c.1812G>T	ENSP00000506109.1:p.Lys604Asn
ENST00000680454.1:n.2256G>T
ENST00000681102.1:c.1632G>T	ENSP00000505600.1:p.Lys544Asn
ENST00000681177.1:c.1516-7196G>T	ENSP00000506327.1:n.1516-7196G>T
ENST00000681937.1:n.2148-7196G>T
ENST00000366576.3:c.474G>T	ENSP00000355535.3:p.Lys158Asn
ENST00000366577.9:c.1812G>T	ENSP00000355536.5:p.Lys604Asn
ENST00000463959.1:n.1831G>T
ENST00000535889.5:c.1812G>T	ENSP00000441845.1:p.Lys604Asn
NM_000254.2:c.1812G>T	NP_000245.2:p.Lys604Asn
NM_001291939.1:c.1812G>T	NP_001278868.1:p.Lys604Asn
NM_001291940.1:c.591G>T	NP_001278869.1:p.Lys197Asn
XM_005273141.3:c.1809G>T	XP_005273198.1:p.Lys603Asn
XM_006711769.2:c.1812G>T	XP_006711832.1:p.Lys604Asn
XM_006711770.1:c.876G>T	XP_006711833.1:p.Lys292Asn
XM_011544193.1:c.1812G>T	XP_011542495.1:p.Lys604Asn
XM_011544194.1:c.1980G>T	XP_011542496.1:p.Lys660Asn
XM_005273141.5:c.1809G>T	XP_005273198.1:p.Lys603Asn
XM_006711770.3:c.876G>T	XP_006711833.1:p.Lys292Asn
XM_011544194.3:c.1980G>T	XP_011542496.1:p.Lys660Asn
XM_017001329.2:c.1980G>T	XP_016856818.1:p.Lys660Asn
XM_017001330.2:c.1980G>T	XP_016856819.1:p.Lys660Asn
NM_001291940.2:c.591G>T	NP_001278869.1:p.Lys197Asn
NM_000254.3:c.1812G>T MANE Select	NP_000245.2:p.Lys604Asn