Canonical Allele Identifier: CA1474159

Gene: MTR

Linked Data

• ClinVar Variation Id: 2737451
• ClinVar RCV Id: RCV003516397
• dbSNP Id: rs765341768
• ExAC: 1:237015862 C / T
• gnomAD v2: 1-237015862-C-T
• gnomAD v4: 1-236852562-C-T
• MyVariant Identifiers: chr1:g.237015862C>T (hg19) ; chr1:g.236852562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852562C>T , CM000663.2:g.236852562C>T	GRCh38
NC_000001.10:g.237015862C>T , CM000663.1:g.237015862C>T	GRCh37
NC_000001.9:g.235082485C>T	NCBI36
NG_008959.1:g.62282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1737C>T MANE Select	ENSP00000355536.5:p.Asn579=
ENST00000535889.6:c.1737C>T	ENSP00000441845.1:p.Asn579=
ENST00000650888.1:c.*779C>T	ENSP00000498393.1:n.*779C>T
ENST00000651455.1:c.*481C>T	ENSP00000498963.1:n.*481C>T
ENST00000674797.2:c.1389C>T	ENSP00000502299.2:p.Asn463=
ENST00000679569.1:n.2051C>T
ENST00000679842.1:c.1737C>T	ENSP00000506109.1:p.Asn579=
ENST00000680454.1:n.2181C>T
ENST00000681102.1:c.1557C>T	ENSP00000505600.1:p.Asn519=
ENST00000681177.1:c.1516-7271C>T	ENSP00000506327.1:n.1516-7271C>T
ENST00000681937.1:n.2148-7271C>T
ENST00000366576.3:c.399C>T	ENSP00000355535.3:p.Asn133=
ENST00000366577.9:c.1737C>T	ENSP00000355536.5:p.Asn579=
ENST00000463959.1:n.1756C>T
ENST00000535889.5:c.1737C>T	ENSP00000441845.1:p.Asn579=
NM_000254.2:c.1737C>T	NP_000245.2:p.Asn579=
NM_001291939.1:c.1737C>T	NP_001278868.1:p.Asn579=
NM_001291940.1:c.516C>T	NP_001278869.1:p.Asn172=
XM_005273141.3:c.1734C>T	XP_005273198.1:p.Asn578=
XM_006711769.2:c.1737C>T	XP_006711832.1:p.Asn579=
XM_006711770.1:c.801C>T	XP_006711833.1:p.Asn267=
XM_011544193.1:c.1737C>T	XP_011542495.1:p.Asn579=
XM_011544194.1:c.1905C>T	XP_011542496.1:p.Asn635=
XM_005273141.5:c.1734C>T	XP_005273198.1:p.Asn578=
XM_006711770.3:c.801C>T	XP_006711833.1:p.Asn267=
XM_011544194.3:c.1905C>T	XP_011542496.1:p.Asn635=
XM_017001329.2:c.1905C>T	XP_016856818.1:p.Asn635=
XM_017001330.2:c.1905C>T	XP_016856819.1:p.Asn635=
NM_001291940.2:c.516C>T	NP_001278869.1:p.Asn172=
NM_000254.3:c.1737C>T MANE Select	NP_000245.2:p.Asn579=