Canonical Allele Identifier: CA345374995

Gene: MTR

Linked Data

• dbSNP Id: rs1664000310
• gnomAD v3: 1-236852949-C-A
• gnomAD v4: 1-236852949-C-A
• MyVariant Identifiers: chr1:g.237016249C>A (hg19) ; chr1:g.236852949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852949C>A , CM000663.2:g.236852949C>A	GRCh38
NC_000001.10:g.237016249C>A , CM000663.1:g.237016249C>A	GRCh37
NC_000001.9:g.235082872C>A	NCBI36
NG_008959.1:g.62669C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1814C>A MANE Select	ENSP00000355536.5:p.Ser605Tyr
ENST00000535889.6:c.1814C>A	ENSP00000441845.1:p.Ser605Tyr
ENST00000650888.1:c.*856C>A	ENSP00000498393.1:n.*856C>A
ENST00000651455.1:c.*558C>A	ENSP00000498963.1:n.*558C>A
ENST00000674797.2:c.1466C>A	ENSP00000502299.2:p.Ser489Tyr
ENST00000679569.1:n.2128C>A
ENST00000679842.1:c.1814C>A	ENSP00000506109.1:p.Ser605Tyr
ENST00000680454.1:n.2258C>A
ENST00000681102.1:c.1634C>A	ENSP00000505600.1:p.Ser545Tyr
ENST00000681177.1:c.1516-6884C>A	ENSP00000506327.1:n.1516-6884C>A
ENST00000681937.1:n.2148-6884C>A
ENST00000366576.3:c.476C>A	ENSP00000355535.3:p.Ser159Tyr
ENST00000366577.9:c.1814C>A	ENSP00000355536.5:p.Ser605Tyr
ENST00000463959.1:n.1833C>A
ENST00000535889.5:c.1814C>A	ENSP00000441845.1:p.Ser605Tyr
NM_000254.2:c.1814C>A	NP_000245.2:p.Ser605Tyr
NM_001291939.1:c.1814C>A	NP_001278868.1:p.Ser605Tyr
NM_001291940.1:c.593C>A	NP_001278869.1:p.Ser198Tyr
XM_005273141.3:c.1811C>A	XP_005273198.1:p.Ser604Tyr
XM_006711769.2:c.1814C>A	XP_006711832.1:p.Ser605Tyr
XM_006711770.1:c.878C>A	XP_006711833.1:p.Ser293Tyr
XM_011544193.1:c.1814C>A	XP_011542495.1:p.Ser605Tyr
XM_011544194.1:c.1982C>A	XP_011542496.1:p.Ser661Tyr
XM_005273141.5:c.1811C>A	XP_005273198.1:p.Ser604Tyr
XM_006711770.3:c.878C>A	XP_006711833.1:p.Ser293Tyr
XM_011544194.3:c.1982C>A	XP_011542496.1:p.Ser661Tyr
XM_017001329.2:c.1982C>A	XP_016856818.1:p.Ser661Tyr
XM_017001330.2:c.1982C>A	XP_016856819.1:p.Ser661Tyr
NM_001291940.2:c.593C>A	NP_001278869.1:p.Ser198Tyr
NM_000254.3:c.1814C>A MANE Select	NP_000245.2:p.Ser605Tyr