Canonical Allele Identifier: CA345375045

Gene: MTR

Linked Data

• dbSNP Id: rs2103254703
• MyVariant Identifiers: chr1:g.237016269G>T (hg19) ; chr1:g.236852969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852969G>T , CM000663.2:g.236852969G>T	GRCh38
NC_000001.10:g.237016269G>T , CM000663.1:g.237016269G>T	GRCh37
NC_000001.9:g.235082892G>T	NCBI36
NG_008959.1:g.62689G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1834G>T MANE Select	ENSP00000355536.5:p.Val612Leu
ENST00000535889.6:c.1834G>T	ENSP00000441845.1:p.Val612Leu
ENST00000650888.1:c.*876G>T	ENSP00000498393.1:n.*876G>T
ENST00000651455.1:c.*578G>T	ENSP00000498963.1:n.*578G>T
ENST00000674797.2:c.1486G>T	ENSP00000502299.2:p.Val496Leu
ENST00000679569.1:n.2148G>T
ENST00000679842.1:c.1834G>T	ENSP00000506109.1:p.Val612Leu
ENST00000680454.1:n.2278G>T
ENST00000681102.1:c.1654G>T	ENSP00000505600.1:p.Val552Leu
ENST00000681177.1:c.1516-6864G>T	ENSP00000506327.1:n.1516-6864G>T
ENST00000681937.1:n.2148-6864G>T
ENST00000366576.3:c.496G>T	ENSP00000355535.3:p.Val166Leu
ENST00000366577.9:c.1834G>T	ENSP00000355536.5:p.Val612Leu
ENST00000463959.1:n.1853G>T
ENST00000535889.5:c.1834G>T	ENSP00000441845.1:p.Val612Leu
NM_000254.2:c.1834G>T	NP_000245.2:p.Val612Leu
NM_001291939.1:c.1834G>T	NP_001278868.1:p.Val612Leu
NM_001291940.1:c.613G>T	NP_001278869.1:p.Val205Leu
XM_005273141.3:c.1831G>T	XP_005273198.1:p.Val611Leu
XM_006711769.2:c.1834G>T	XP_006711832.1:p.Val612Leu
XM_006711770.1:c.898G>T	XP_006711833.1:p.Val300Leu
XM_011544193.1:c.1834G>T	XP_011542495.1:p.Val612Leu
XM_011544194.1:c.2002G>T	XP_011542496.1:p.Val668Leu
XM_005273141.5:c.1831G>T	XP_005273198.1:p.Val611Leu
XM_006711770.3:c.898G>T	XP_006711833.1:p.Val300Leu
XM_011544194.3:c.2002G>T	XP_011542496.1:p.Val668Leu
XM_017001329.2:c.2002G>T	XP_016856818.1:p.Val668Leu
XM_017001330.2:c.2002G>T	XP_016856819.1:p.Val668Leu
NM_001291940.2:c.613G>T	NP_001278869.1:p.Val205Leu
NM_000254.3:c.1834G>T MANE Select	NP_000245.2:p.Val612Leu