Canonical Allele Identifier: CA338378752

Gene: MTOR

Linked Data

• dbSNP Id: rs1641739310
• MyVariant Identifiers: chr1:g.11169414C>G (hg19) ; chr1:g.11109357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109357C>G , CM000663.2:g.11109357C>G	GRCh38
NC_000001.10:g.11169414C>G , CM000663.1:g.11169414C>G	GRCh37
NC_000001.9:g.11092001C>G	NCBI36
NG_033239.1:g.158195G>C , LRG_734:g.158195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2836G>C	ENSP00000515181.1:n.*2836G>C
ENST00000703131.1:n.3379G>C
ENST00000703139.1:c.2249G>C
ENST00000703140.1:c.7248G>C	ENSP00000515197.1:p.Leu2416Phe
ENST00000703141.1:c.*2978G>C	ENSP00000515198.1:n.*2978G>C
ENST00000703142.1:c.*4291G>C	ENSP00000515199.1:n.*4291G>C
ENST00000361445.9:c.7461G>C MANE Select	ENSP00000354558.4:p.Leu2487Phe
ENST00000361445.8:c.7461G>C	ENSP00000354558.4:p.Leu2487Phe
ENST00000376838.5:c.2076G>C	ENSP00000366034.1:p.Leu692Phe
ENST00000455339.1:c.429G>C	ENSP00000398745.1:p.Leu143Phe
ENST00000473471.5:n.473G>C
ENST00000490931.1:n.744G>C
NM_004958.3:c.7461G>C , LRG_734t1:c.7461G>C	NP_004949.1:p.Leu2487Phe
XM_005263438.1:c.7461G>C	XP_005263495.1:p.Leu2487Phe
XM_005263438.2:c.7461G>C	XP_005263495.1:p.Leu2487Phe
XM_017000900.1:c.6780G>C	XP_016856389.1:p.Leu2260Phe
XM_017000901.1:c.6213G>C	XP_016856390.1:p.Leu2071Phe
XM_024446187.1:c.7461G>C	XP_024301955.1:p.Leu2487Phe
XR_001737087.1:n.7499G>C
NM_004958.4:c.7461G>C MANE Select	NP_004949.1:p.Leu2487Phe
NM_001386500.1:c.7461G>C	NP_001373429.1:p.Leu2487Phe
NM_001386501.1:c.6213G>C	NP_001373430.1:p.Leu2071Phe