Canonical Allele Identifier: CA589563
Gene: MTOR HGNC NCBI
MTOR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 516654
ClinVar RCV Id: RCV000602357 RCV001523548 RCV001775919
dbSNP Id: rs1057079
ExAC: 1:11205058 C / T
gnomAD v2: 1-11205058-C-T
gnomAD v3: 1-11145001-C-T
gnomAD v4: 1-11145001-C-T
MyVariant Identifiers: chr1:g.11205058C>T (hg19) chr1:g.11145001C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11145001C>T , CM000663.2:g.11145001C>T GRCh38
NC_000001.10:g.11205058C>T , CM000663.1:g.11205058C>T GRCh37
NC_000001.9:g.11127645C>T NCBI36
NG_033239.1:g.122551G>A , LRG_734:g.122551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*106G>A (MTOR) ENSP00000515181.1:n.*106G>A
ENST00000703131.1:n.651G>A (MTOR)
ENST00000703140.1:c.4518G>A (MTOR) ENSP00000515197.1:p.Ala1506=
ENST00000703141.1:c.4731G>A (MTOR) ENSP00000515198.1:p.Ala1577=
ENST00000703142.1:c.*1561G>A (MTOR) ENSP00000515199.1:n.*1561G>A
ENST00000361445.9:c.4731G>A (MTOR) MANE Select ENSP00000354558.4:p.Ala1577=
ENST00000361445.8:c.4731G>A (MTOR) ENSP00000354558.4:p.Ala1577=
ENST00000495435.1:n.25G>A (MTOR)
NM_004958.3:c.4731G>A , LRG_734t1:c.4731G>A (MTOR) NP_004949.1:p.Ala1577=
NR_046600.1:n.310+115C>T (MTOR-AS1)
XM_005263438.1:c.4731G>A (MTOR) XP_005263495.1:p.Ala1577=
XM_011541166.1:c.4731G>A (MTOR) XP_011539468.1:p.Ala1577=
XR_244786.1:n.4852G>A (MTOR)
XM_005263438.2:c.4731G>A (MTOR) XP_005263495.1:p.Ala1577=
XM_011541166.2:c.4731G>A (MTOR) XP_011539468.1:p.Ala1577=
XM_017000900.1:c.4050G>A (MTOR) XP_016856389.1:p.Ala1350=
XM_017000901.1:c.3483G>A (MTOR) XP_016856390.1:p.Ala1161=
XM_024446187.1:c.4731G>A (MTOR) XP_024301955.1:p.Ala1577=
XR_001737087.1:n.4852G>A (MTOR)
NM_004958.4:c.4731G>A (MTOR) MANE Select NP_004949.1:p.Ala1577=
NM_001386500.1:c.4731G>A (MTOR) NP_001373429.1:p.Ala1577=
NM_001386501.1:c.3483G>A (MTOR) NP_001373430.1:p.Ala1161=
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