Canonical Allele Identifier: CA338378604

Gene: MTOR

Linked Data

• MyVariant Identifiers: chr1:g.11169376A>C (hg19) ; chr1:g.11109319A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109319A>C , CM000663.2:g.11109319A>C	GRCh38
NC_000001.10:g.11169376A>C , CM000663.1:g.11169376A>C	GRCh37
NC_000001.9:g.11091963A>C	NCBI36
NG_033239.1:g.158233T>G , LRG_734:g.158233T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2874T>G	ENSP00000515181.1:n.*2874T>G
ENST00000703131.1:n.3417T>G
ENST00000703139.1:c.2287T>G
ENST00000703140.1:c.7286T>G	ENSP00000515197.1:p.Ile2429Ser
ENST00000703141.1:c.*3016T>G	ENSP00000515198.1:n.*3016T>G
ENST00000703142.1:c.*4329T>G	ENSP00000515199.1:n.*4329T>G
ENST00000361445.9:c.7499T>G MANE Select	ENSP00000354558.4:p.Ile2500Ser
ENST00000361445.8:c.7499T>G	ENSP00000354558.4:p.Ile2500Ser
ENST00000376838.5:c.2114T>G	ENSP00000366034.1:p.Ile705Ser
ENST00000455339.1:c.467T>G	ENSP00000398745.1:p.Ile156Ser
ENST00000473471.5:n.511T>G
ENST00000490931.1:n.782T>G
NM_004958.3:c.7499T>G , LRG_734t1:c.7499T>G	NP_004949.1:p.Ile2500Ser
XM_005263438.1:c.7499T>G	XP_005263495.1:p.Ile2500Ser
XM_005263438.2:c.7499T>G	XP_005263495.1:p.Ile2500Ser
XM_017000900.1:c.6818T>G	XP_016856389.1:p.Ile2273Ser
XM_017000901.1:c.6251T>G	XP_016856390.1:p.Ile2084Ser
XM_024446187.1:c.7499T>G	XP_024301955.1:p.Ile2500Ser
XR_001737087.1:n.7537T>G
NM_004958.4:c.7499T>G MANE Select	NP_004949.1:p.Ile2500Ser
NM_001386500.1:c.7499T>G	NP_001373429.1:p.Ile2500Ser
NM_001386501.1:c.6251T>G	NP_001373430.1:p.Ile2084Ser