Canonical Allele Identifier: CA345384719

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048519G>C (hg19) ; chr1:g.236885219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885219G>C , CM000663.2:g.236885219G>C	GRCh38
NC_000001.10:g.237048519G>C , CM000663.1:g.237048519G>C	GRCh37
NC_000001.9:g.235115142G>C	NCBI36
NG_008959.1:g.94939G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2775G>C MANE Select	ENSP00000355536.5:p.Lys925Asn
ENST00000535889.6:c.2622G>C	ENSP00000441845.1:p.Lys874Asn
ENST00000650888.1:c.*1817G>C	ENSP00000498393.1:n.*1817G>C
ENST00000651455.1:c.*1519G>C	ENSP00000498963.1:n.*1519G>C
ENST00000674797.2:c.2427G>C	ENSP00000502299.2:p.Lys809Asn
ENST00000679569.1:n.3089G>C
ENST00000679842.1:c.2586G>C	ENSP00000506109.1:p.Lys862Asn
ENST00000680454.1:n.3219G>C
ENST00000681102.1:c.2595G>C	ENSP00000505600.1:p.Lys865Asn
ENST00000681177.1:c.2337G>C	ENSP00000506327.1:p.Lys779Asn
ENST00000681937.1:n.2969G>C
ENST00000366576.3:c.1437G>C	ENSP00000355535.3:p.Lys479Asn
ENST00000366577.9:c.2775G>C	ENSP00000355536.5:p.Lys925Asn
ENST00000535889.5:c.2622G>C	ENSP00000441845.1:p.Lys874Asn
NM_000254.2:c.2775G>C	NP_000245.2:p.Lys925Asn
NM_001291939.1:c.2622G>C	NP_001278868.1:p.Lys874Asn
NM_001291940.1:c.1554G>C	NP_001278869.1:p.Lys518Asn
XM_005273141.3:c.2772G>C	XP_005273198.1:p.Lys924Asn
XM_006711769.2:c.2775G>C	XP_006711832.1:p.Lys925Asn
XM_006711770.1:c.1839G>C	XP_006711833.1:p.Lys613Asn
XM_011544193.1:c.2586G>C	XP_011542495.1:p.Lys862Asn
XM_011544194.1:c.2943G>C	XP_011542496.1:p.Lys981Asn
XM_005273141.5:c.2772G>C	XP_005273198.1:p.Lys924Asn
XM_006711770.3:c.1839G>C	XP_006711833.1:p.Lys613Asn
XM_011544194.3:c.2943G>C	XP_011542496.1:p.Lys981Asn
XM_017001329.2:c.2790G>C	XP_016856818.1:p.Lys930Asn
XM_017001330.2:c.2754G>C	XP_016856819.1:p.Lys918Asn
NM_001291940.2:c.1554G>C	NP_001278869.1:p.Lys518Asn
NM_000254.3:c.2775G>C MANE Select	NP_000245.2:p.Lys925Asn