Canonical Allele Identifier: CA345374865

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015894T>A (hg19) ; chr1:g.236852594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852594T>A , CM000663.2:g.236852594T>A	GRCh38
NC_000001.10:g.237015894T>A , CM000663.1:g.237015894T>A	GRCh37
NC_000001.9:g.235082517T>A	NCBI36
NG_008959.1:g.62314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1769T>A MANE Select	ENSP00000355536.5:p.Ile590Asn
ENST00000535889.6:c.1769T>A	ENSP00000441845.1:p.Ile590Asn
ENST00000650888.1:c.*811T>A	ENSP00000498393.1:n.*811T>A
ENST00000651455.1:c.*513T>A	ENSP00000498963.1:n.*513T>A
ENST00000674797.2:c.1421T>A	ENSP00000502299.2:p.Ile474Asn
ENST00000679569.1:n.2083T>A
ENST00000679842.1:c.1769T>A	ENSP00000506109.1:p.Ile590Asn
ENST00000680454.1:n.2213T>A
ENST00000681102.1:c.1589T>A	ENSP00000505600.1:p.Ile530Asn
ENST00000681177.1:c.1516-7239T>A	ENSP00000506327.1:n.1516-7239T>A
ENST00000681937.1:n.2148-7239T>A
ENST00000366576.3:c.431T>A	ENSP00000355535.3:p.Ile144Asn
ENST00000366577.9:c.1769T>A	ENSP00000355536.5:p.Ile590Asn
ENST00000463959.1:n.1788T>A
ENST00000535889.5:c.1769T>A	ENSP00000441845.1:p.Ile590Asn
NM_000254.2:c.1769T>A	NP_000245.2:p.Ile590Asn
NM_001291939.1:c.1769T>A	NP_001278868.1:p.Ile590Asn
NM_001291940.1:c.548T>A	NP_001278869.1:p.Ile183Asn
XM_005273141.3:c.1766T>A	XP_005273198.1:p.Ile589Asn
XM_006711769.2:c.1769T>A	XP_006711832.1:p.Ile590Asn
XM_006711770.1:c.833T>A	XP_006711833.1:p.Ile278Asn
XM_011544193.1:c.1769T>A	XP_011542495.1:p.Ile590Asn
XM_011544194.1:c.1937T>A	XP_011542496.1:p.Ile646Asn
XM_005273141.5:c.1766T>A	XP_005273198.1:p.Ile589Asn
XM_006711770.3:c.833T>A	XP_006711833.1:p.Ile278Asn
XM_011544194.3:c.1937T>A	XP_011542496.1:p.Ile646Asn
XM_017001329.2:c.1937T>A	XP_016856818.1:p.Ile646Asn
XM_017001330.2:c.1937T>A	XP_016856819.1:p.Ile646Asn
NM_001291940.2:c.548T>A	NP_001278869.1:p.Ile183Asn
NM_000254.3:c.1769T>A MANE Select	NP_000245.2:p.Ile590Asn