Canonical Allele Identifier: CA345384429

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048445C>A (hg19) ; chr1:g.236885145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885145C>A , CM000663.2:g.236885145C>A	GRCh38
NC_000001.10:g.237048445C>A , CM000663.1:g.237048445C>A	GRCh37
NC_000001.9:g.235115068C>A	NCBI36
NG_008959.1:g.94865C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2701C>A MANE Select	ENSP00000355536.5:p.Leu901Ile
ENST00000535889.6:c.2548C>A	ENSP00000441845.1:p.Leu850Ile
ENST00000650888.1:c.*1743C>A	ENSP00000498393.1:n.*1743C>A
ENST00000651455.1:c.*1445C>A	ENSP00000498963.1:n.*1445C>A
ENST00000674797.2:c.2353C>A	ENSP00000502299.2:p.Leu785Ile
ENST00000679569.1:n.3015C>A
ENST00000679842.1:c.2512C>A	ENSP00000506109.1:p.Leu838Ile
ENST00000680454.1:n.3145C>A
ENST00000681102.1:c.2521C>A	ENSP00000505600.1:p.Leu841Ile
ENST00000681177.1:c.2263C>A	ENSP00000506327.1:p.Leu755Ile
ENST00000681937.1:n.2895C>A
ENST00000366576.3:c.1363C>A	ENSP00000355535.3:p.Leu455Ile
ENST00000366577.9:c.2701C>A	ENSP00000355536.5:p.Leu901Ile
ENST00000535889.5:c.2548C>A	ENSP00000441845.1:p.Leu850Ile
NM_000254.2:c.2701C>A	NP_000245.2:p.Leu901Ile
NM_001291939.1:c.2548C>A	NP_001278868.1:p.Leu850Ile
NM_001291940.1:c.1480C>A	NP_001278869.1:p.Leu494Ile
XM_005273141.3:c.2698C>A	XP_005273198.1:p.Leu900Ile
XM_006711769.2:c.2701C>A	XP_006711832.1:p.Leu901Ile
XM_006711770.1:c.1765C>A	XP_006711833.1:p.Leu589Ile
XM_011544193.1:c.2512C>A	XP_011542495.1:p.Leu838Ile
XM_011544194.1:c.2869C>A	XP_011542496.1:p.Leu957Ile
XM_005273141.5:c.2698C>A	XP_005273198.1:p.Leu900Ile
XM_006711770.3:c.1765C>A	XP_006711833.1:p.Leu589Ile
XM_011544194.3:c.2869C>A	XP_011542496.1:p.Leu957Ile
XM_017001329.2:c.2716C>A	XP_016856818.1:p.Leu906Ile
XM_017001330.2:c.2680C>A	XP_016856819.1:p.Leu894Ile
NM_001291940.2:c.1480C>A	NP_001278869.1:p.Leu494Ile
NM_000254.3:c.2701C>A MANE Select	NP_000245.2:p.Leu901Ile