Canonical Allele Identifier: CA521171018

Gene: MTOR

Linked Data

• dbSNP Id: rs1294789030
• gnomAD v2: 1-11169476-C-T
• gnomAD v4: 1-11109419-C-T
• MyVariant Identifiers: chr1:g.11169476C>T (hg19) ; chr1:g.11109419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109419C>T , CM000663.2:g.11109419C>T	GRCh38
NC_000001.10:g.11169476C>T , CM000663.1:g.11169476C>T	GRCh37
NC_000001.9:g.11092063C>T	NCBI36
NG_033239.1:g.158133G>A , LRG_734:g.158133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2823-49G>A	ENSP00000515181.1:n.*2823-49G>A
ENST00000703131.1:n.3366-49G>A
ENST00000703139.1:c.2236-49G>A
ENST00000703140.1:c.7235-49G>A	ENSP00000515197.1:n.7235-49G>A
ENST00000703141.1:c.*2965-49G>A	ENSP00000515198.1:n.*2965-49G>A
ENST00000703142.1:c.*4278-49G>A	ENSP00000515199.1:n.*4278-49G>A
ENST00000361445.9:c.7448-49G>A MANE Select	ENSP00000354558.4:n.7448-49G>A
ENST00000361445.8:c.7448-49G>A	ENSP00000354558.4:n.7448-49G>A
ENST00000376838.5:c.2063-49G>A	ENSP00000366034.1:n.2063-49G>A
ENST00000455339.1:c.416-49G>A	ENSP00000398745.1:n.416-49G>A
ENST00000473471.5:n.460-49G>A
ENST00000490931.1:n.731-49G>A
NM_004958.3:c.7448-49G>A , LRG_734t1:c.7448-49G>A	NP_004949.1:n.7448-49G>A
XM_005263438.1:c.7448-49G>A	XP_005263495.1:n.7448-49G>A
XM_005263438.2:c.7448-49G>A	XP_005263495.1:n.7448-49G>A
XM_017000900.1:c.6767-49G>A	XP_016856389.1:n.6767-49G>A
XM_017000901.1:c.6200-49G>A	XP_016856390.1:n.6200-49G>A
XM_024446187.1:c.7448-49G>A	XP_024301955.1:n.7448-49G>A
XR_001737087.1:n.7486-49G>A
NM_004958.4:c.7448-49G>A MANE Select	NP_004949.1:n.7448-49G>A
NM_001386500.1:c.7448-49G>A	NP_001373429.1:n.7448-49G>A
NM_001386501.1:c.6200-49G>A	NP_001373430.1:n.6200-49G>A