Canonical Allele Identifier: CA345384696

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048514C>A (hg19) ; chr1:g.236885214C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885214C>A , CM000663.2:g.236885214C>A	GRCh38
NC_000001.10:g.237048514C>A , CM000663.1:g.237048514C>A	GRCh37
NC_000001.9:g.235115137C>A	NCBI36
NG_008959.1:g.94934C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2770C>A MANE Select	ENSP00000355536.5:p.Leu924Ile
ENST00000535889.6:c.2617C>A	ENSP00000441845.1:p.Leu873Ile
ENST00000650888.1:c.*1812C>A	ENSP00000498393.1:n.*1812C>A
ENST00000651455.1:c.*1514C>A	ENSP00000498963.1:n.*1514C>A
ENST00000674797.2:c.2422C>A	ENSP00000502299.2:p.Leu808Ile
ENST00000679569.1:n.3084C>A
ENST00000679842.1:c.2581C>A	ENSP00000506109.1:p.Leu861Ile
ENST00000680454.1:n.3214C>A
ENST00000681102.1:c.2590C>A	ENSP00000505600.1:p.Leu864Ile
ENST00000681177.1:c.2332C>A	ENSP00000506327.1:p.Leu778Ile
ENST00000681937.1:n.2964C>A
ENST00000366576.3:c.1432C>A	ENSP00000355535.3:p.Leu478Ile
ENST00000366577.9:c.2770C>A	ENSP00000355536.5:p.Leu924Ile
ENST00000535889.5:c.2617C>A	ENSP00000441845.1:p.Leu873Ile
NM_000254.2:c.2770C>A	NP_000245.2:p.Leu924Ile
NM_001291939.1:c.2617C>A	NP_001278868.1:p.Leu873Ile
NM_001291940.1:c.1549C>A	NP_001278869.1:p.Leu517Ile
XM_005273141.3:c.2767C>A	XP_005273198.1:p.Leu923Ile
XM_006711769.2:c.2770C>A	XP_006711832.1:p.Leu924Ile
XM_006711770.1:c.1834C>A	XP_006711833.1:p.Leu612Ile
XM_011544193.1:c.2581C>A	XP_011542495.1:p.Leu861Ile
XM_011544194.1:c.2938C>A	XP_011542496.1:p.Leu980Ile
XM_005273141.5:c.2767C>A	XP_005273198.1:p.Leu923Ile
XM_006711770.3:c.1834C>A	XP_006711833.1:p.Leu612Ile
XM_011544194.3:c.2938C>A	XP_011542496.1:p.Leu980Ile
XM_017001329.2:c.2785C>A	XP_016856818.1:p.Leu929Ile
XM_017001330.2:c.2749C>A	XP_016856819.1:p.Leu917Ile
NM_001291940.2:c.1549C>A	NP_001278869.1:p.Leu517Ile
NM_000254.3:c.2770C>A MANE Select	NP_000245.2:p.Leu924Ile