Canonical Allele Identifier: CA1474196

Gene: MTR

Linked Data

• ClinVar Variation Id: 2525340
• ClinVar RCV Id: RCV003274896
• dbSNP Id: rs762999544
• ExAC: 1:237016282 A / G
• gnomAD v2: 1-237016282-A-G
• gnomAD v3: 1-236852982-A-G
• gnomAD v4: 1-236852982-A-G
• MyVariant Identifiers: chr1:g.237016282A>G (hg19) ; chr1:g.236852982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852982A>G , CM000663.2:g.236852982A>G	GRCh38
NC_000001.10:g.237016282A>G , CM000663.1:g.237016282A>G	GRCh37
NC_000001.9:g.235082905A>G	NCBI36
NG_008959.1:g.62702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1847A>G MANE Select	ENSP00000355536.5:p.Asn616Ser
ENST00000535889.6:c.1847A>G	ENSP00000441845.1:p.Asn616Ser
ENST00000650888.1:c.*889A>G	ENSP00000498393.1:n.*889A>G
ENST00000651455.1:c.*591A>G	ENSP00000498963.1:n.*591A>G
ENST00000674797.2:c.1499A>G	ENSP00000502299.2:p.Asn500Ser
ENST00000679569.1:n.2161A>G
ENST00000679842.1:c.1847A>G	ENSP00000506109.1:p.Asn616Ser
ENST00000680454.1:n.2291A>G
ENST00000681102.1:c.1667A>G	ENSP00000505600.1:p.Asn556Ser
ENST00000681177.1:c.1516-6851A>G	ENSP00000506327.1:n.1516-6851A>G
ENST00000681937.1:n.2148-6851A>G
ENST00000366576.3:c.509A>G	ENSP00000355535.3:p.Asn170Ser
ENST00000366577.9:c.1847A>G	ENSP00000355536.5:p.Asn616Ser
ENST00000463959.1:n.1866A>G
ENST00000535889.5:c.1847A>G	ENSP00000441845.1:p.Asn616Ser
NM_000254.2:c.1847A>G	NP_000245.2:p.Asn616Ser
NM_001291939.1:c.1847A>G	NP_001278868.1:p.Asn616Ser
NM_001291940.1:c.626A>G	NP_001278869.1:p.Asn209Ser
XM_005273141.3:c.1844A>G	XP_005273198.1:p.Asn615Ser
XM_006711769.2:c.1847A>G	XP_006711832.1:p.Asn616Ser
XM_006711770.1:c.911A>G	XP_006711833.1:p.Asn304Ser
XM_011544193.1:c.1847A>G	XP_011542495.1:p.Asn616Ser
XM_011544194.1:c.2015A>G	XP_011542496.1:p.Asn672Ser
XM_005273141.5:c.1844A>G	XP_005273198.1:p.Asn615Ser
XM_006711770.3:c.911A>G	XP_006711833.1:p.Asn304Ser
XM_011544194.3:c.2015A>G	XP_011542496.1:p.Asn672Ser
XM_017001329.2:c.2015A>G	XP_016856818.1:p.Asn672Ser
XM_017001330.2:c.2015A>G	XP_016856819.1:p.Asn672Ser
NM_001291940.2:c.626A>G	NP_001278869.1:p.Asn209Ser
NM_000254.3:c.1847A>G MANE Select	NP_000245.2:p.Asn616Ser