Canonical Allele Identifier: CA338378521

Gene: MTOR

Linked Data

• dbSNP Id: rs2100286499
• MyVariant Identifiers: chr1:g.11169349G>C (hg19) ; chr1:g.11109292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109292G>C , CM000663.2:g.11109292G>C	GRCh38
NC_000001.10:g.11169349G>C , CM000663.1:g.11169349G>C	GRCh37
NC_000001.9:g.11091936G>C	NCBI36
NG_033239.1:g.158260C>G , LRG_734:g.158260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2901C>G	ENSP00000515181.1:n.*2901C>G
ENST00000703131.1:n.3444C>G
ENST00000703139.1:c.2314C>G
ENST00000703140.1:c.7313C>G	ENSP00000515197.1:p.Thr2438Ser
ENST00000703141.1:c.*3043C>G	ENSP00000515198.1:n.*3043C>G
ENST00000703142.1:c.*4356C>G	ENSP00000515199.1:n.*4356C>G
ENST00000361445.9:c.7526C>G MANE Select	ENSP00000354558.4:p.Thr2509Ser
ENST00000361445.8:c.7526C>G	ENSP00000354558.4:p.Thr2509Ser
ENST00000376838.5:c.2141C>G	ENSP00000366034.1:p.Thr714Ser
ENST00000473471.5:n.538C>G
ENST00000490931.1:n.809C>G
NM_004958.3:c.7526C>G , LRG_734t1:c.7526C>G	NP_004949.1:p.Thr2509Ser
XM_005263438.1:c.7526C>G	XP_005263495.1:p.Thr2509Ser
XM_005263438.2:c.7526C>G	XP_005263495.1:p.Thr2509Ser
XM_017000900.1:c.6845C>G	XP_016856389.1:p.Thr2282Ser
XM_017000901.1:c.6278C>G	XP_016856390.1:p.Thr2093Ser
XM_024446187.1:c.7526C>G	XP_024301955.1:p.Thr2509Ser
XR_001737087.1:n.7564C>G
NM_004958.4:c.7526C>G MANE Select	NP_004949.1:p.Thr2509Ser
NM_001386500.1:c.7526C>G	NP_001373429.1:p.Thr2509Ser
NM_001386501.1:c.6278C>G	NP_001373430.1:p.Thr2093Ser