Canonical Allele Identifier: CA1474162

Gene: MTR

Linked Data

• dbSNP Id: rs766888517
• ExAC: 1:237015876 T / C
• gnomAD v2: 1-237015876-T-C
• gnomAD v4: 1-236852576-T-C
• MyVariant Identifiers: chr1:g.237015876T>C (hg19) ; chr1:g.236852576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852576T>C , CM000663.2:g.236852576T>C	GRCh38
NC_000001.10:g.237015876T>C , CM000663.1:g.237015876T>C	GRCh37
NC_000001.9:g.235082499T>C	NCBI36
NG_008959.1:g.62296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1751T>C MANE Select	ENSP00000355536.5:p.Phe584Ser
ENST00000535889.6:c.1751T>C	ENSP00000441845.1:p.Phe584Ser
ENST00000650888.1:c.*793T>C	ENSP00000498393.1:n.*793T>C
ENST00000651455.1:c.*495T>C	ENSP00000498963.1:n.*495T>C
ENST00000674797.2:c.1403T>C	ENSP00000502299.2:p.Phe468Ser
ENST00000679569.1:n.2065T>C
ENST00000679842.1:c.1751T>C	ENSP00000506109.1:p.Phe584Ser
ENST00000680454.1:n.2195T>C
ENST00000681102.1:c.1571T>C	ENSP00000505600.1:p.Phe524Ser
ENST00000681177.1:c.1516-7257T>C	ENSP00000506327.1:n.1516-7257T>C
ENST00000681937.1:n.2148-7257T>C
ENST00000366576.3:c.413T>C	ENSP00000355535.3:p.Phe138Ser
ENST00000366577.9:c.1751T>C	ENSP00000355536.5:p.Phe584Ser
ENST00000463959.1:n.1770T>C
ENST00000535889.5:c.1751T>C	ENSP00000441845.1:p.Phe584Ser
NM_000254.2:c.1751T>C	NP_000245.2:p.Phe584Ser
NM_001291939.1:c.1751T>C	NP_001278868.1:p.Phe584Ser
NM_001291940.1:c.530T>C	NP_001278869.1:p.Phe177Ser
XM_005273141.3:c.1748T>C	XP_005273198.1:p.Phe583Ser
XM_006711769.2:c.1751T>C	XP_006711832.1:p.Phe584Ser
XM_006711770.1:c.815T>C	XP_006711833.1:p.Phe272Ser
XM_011544193.1:c.1751T>C	XP_011542495.1:p.Phe584Ser
XM_011544194.1:c.1919T>C	XP_011542496.1:p.Phe640Ser
XM_005273141.5:c.1748T>C	XP_005273198.1:p.Phe583Ser
XM_006711770.3:c.815T>C	XP_006711833.1:p.Phe272Ser
XM_011544194.3:c.1919T>C	XP_011542496.1:p.Phe640Ser
XM_017001329.2:c.1919T>C	XP_016856818.1:p.Phe640Ser
XM_017001330.2:c.1919T>C	XP_016856819.1:p.Phe640Ser
NM_001291940.2:c.530T>C	NP_001278869.1:p.Phe177Ser
NM_000254.3:c.1751T>C MANE Select	NP_000245.2:p.Phe584Ser