Canonical Allele Identifier: CA345376817

Gene: MTR

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236861181A>C , CM000663.2:g.236861181A>C	GRCh38
NC_000001.10:g.237024481A>C , CM000663.1:g.237024481A>C	GRCh37
NC_000001.9:g.235091104A>C	NCBI36
NG_008959.1:g.70901A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2100A>C MANE Select	ENSP00000355536.5:p.Lys700Asn
ENST00000535889.6:c.2044-1055A>C	ENSP00000441845.1:n.2044-1055A>C
ENST00000650888.1:c.*1142A>C	ENSP00000498393.1:n.*1142A>C
ENST00000651455.1:c.*844A>C	ENSP00000498963.1:n.*844A>C
ENST00000674797.2:c.1752A>C	ENSP00000502299.2:p.Lys584Asn
ENST00000679569.1:n.2414A>C
ENST00000679842.1:c.2100A>C	ENSP00000506109.1:p.Lys700Asn
ENST00000680454.1:n.2544A>C
ENST00000681102.1:c.1920A>C	ENSP00000505600.1:p.Lys640Asn
ENST00000681177.1:c.1662A>C	ENSP00000506327.1:p.Lys554Asn
ENST00000681937.1:n.2294A>C
ENST00000366576.3:c.762A>C	ENSP00000355535.3:p.Lys254Asn
ENST00000366577.9:c.2100A>C	ENSP00000355536.5:p.Lys700Asn
ENST00000535889.5:c.2044-1055A>C	ENSP00000441845.1:n.2044-1055A>C
NM_000254.2:c.2100A>C	NP_000245.2:p.Lys700Asn
NM_001291939.1:c.2044-1055A>C	NP_001278868.1:n.2044-1055A>C
NM_001291940.1:c.879A>C	NP_001278869.1:p.Lys293Asn
XM_005273141.3:c.2097A>C	XP_005273198.1:p.Lys699Asn
XM_006711769.2:c.2100A>C	XP_006711832.1:p.Lys700Asn
XM_006711770.1:c.1164A>C	XP_006711833.1:p.Lys388Asn
XM_011544193.1:c.2100A>C	XP_011542495.1:p.Lys700Asn
XM_011544194.1:c.2268A>C	XP_011542496.1:p.Lys756Asn
XM_005273141.5:c.2097A>C	XP_005273198.1:p.Lys699Asn
XM_006711770.3:c.1164A>C	XP_006711833.1:p.Lys388Asn
XM_011544194.3:c.2268A>C	XP_011542496.1:p.Lys756Asn
XM_017001329.2:c.2212-1055A>C	XP_016856818.1:n.2212-1055A>C
XM_017001330.2:c.2268A>C	XP_016856819.1:p.Lys756Asn
NM_001291940.2:c.879A>C	NP_001278869.1:p.Lys293Asn
NM_000254.3:c.2100A>C MANE Select	NP_000245.2:p.Lys700Asn