Canonical Allele Identifier: CA345384686

Gene: MTR

Linked Data

• gnomAD v4: 1-236885211-T-A
• MyVariant Identifiers: chr1:g.237048511T>A (hg19) ; chr1:g.236885211T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885211T>A , CM000663.2:g.236885211T>A	GRCh38
NC_000001.10:g.237048511T>A , CM000663.1:g.237048511T>A	GRCh37
NC_000001.9:g.235115134T>A	NCBI36
NG_008959.1:g.94931T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2767T>A MANE Select	ENSP00000355536.5:p.Ser923Thr
ENST00000535889.6:c.2614T>A	ENSP00000441845.1:p.Ser872Thr
ENST00000650888.1:c.*1809T>A	ENSP00000498393.1:n.*1809T>A
ENST00000651455.1:c.*1511T>A	ENSP00000498963.1:n.*1511T>A
ENST00000674797.2:c.2419T>A	ENSP00000502299.2:p.Ser807Thr
ENST00000679569.1:n.3081T>A
ENST00000679842.1:c.2578T>A	ENSP00000506109.1:p.Ser860Thr
ENST00000680454.1:n.3211T>A
ENST00000681102.1:c.2587T>A	ENSP00000505600.1:p.Ser863Thr
ENST00000681177.1:c.2329T>A	ENSP00000506327.1:p.Ser777Thr
ENST00000681937.1:n.2961T>A
ENST00000366576.3:c.1429T>A	ENSP00000355535.3:p.Ser477Thr
ENST00000366577.9:c.2767T>A	ENSP00000355536.5:p.Ser923Thr
ENST00000535889.5:c.2614T>A	ENSP00000441845.1:p.Ser872Thr
NM_000254.2:c.2767T>A	NP_000245.2:p.Ser923Thr
NM_001291939.1:c.2614T>A	NP_001278868.1:p.Ser872Thr
NM_001291940.1:c.1546T>A	NP_001278869.1:p.Ser516Thr
XM_005273141.3:c.2764T>A	XP_005273198.1:p.Ser922Thr
XM_006711769.2:c.2767T>A	XP_006711832.1:p.Ser923Thr
XM_006711770.1:c.1831T>A	XP_006711833.1:p.Ser611Thr
XM_011544193.1:c.2578T>A	XP_011542495.1:p.Ser860Thr
XM_011544194.1:c.2935T>A	XP_011542496.1:p.Ser979Thr
XM_005273141.5:c.2764T>A	XP_005273198.1:p.Ser922Thr
XM_006711770.3:c.1831T>A	XP_006711833.1:p.Ser611Thr
XM_011544194.3:c.2935T>A	XP_011542496.1:p.Ser979Thr
XM_017001329.2:c.2782T>A	XP_016856818.1:p.Ser928Thr
XM_017001330.2:c.2746T>A	XP_016856819.1:p.Ser916Thr
NM_001291940.2:c.1546T>A	NP_001278869.1:p.Ser516Thr
NM_000254.3:c.2767T>A MANE Select	NP_000245.2:p.Ser923Thr