Canonical Allele Identifier: CA338378660

Gene: MTOR

Linked Data

• gnomAD v4: 1-11109333-C-A
• MyVariant Identifiers: chr1:g.11169390C>A (hg19) ; chr1:g.11109333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109333C>A , CM000663.2:g.11109333C>A	GRCh38
NC_000001.10:g.11169390C>A , CM000663.1:g.11169390C>A	GRCh37
NC_000001.9:g.11091977C>A	NCBI36
NG_033239.1:g.158219G>T , LRG_734:g.158219G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2860G>T	ENSP00000515181.1:n.*2860G>T
ENST00000703131.1:n.3403G>T
ENST00000703139.1:c.2273G>T
ENST00000703140.1:c.7272G>T	ENSP00000515197.1:p.Lys2424Asn
ENST00000703141.1:c.*3002G>T	ENSP00000515198.1:n.*3002G>T
ENST00000703142.1:c.*4315G>T	ENSP00000515199.1:n.*4315G>T
ENST00000361445.9:c.7485G>T MANE Select	ENSP00000354558.4:p.Lys2495Asn
ENST00000361445.8:c.7485G>T	ENSP00000354558.4:p.Lys2495Asn
ENST00000376838.5:c.2100G>T	ENSP00000366034.1:p.Lys700Asn
ENST00000455339.1:c.453G>T	ENSP00000398745.1:p.Lys151Asn
ENST00000473471.5:n.497G>T
ENST00000490931.1:n.768G>T
NM_004958.3:c.7485G>T , LRG_734t1:c.7485G>T	NP_004949.1:p.Lys2495Asn
XM_005263438.1:c.7485G>T	XP_005263495.1:p.Lys2495Asn
XM_005263438.2:c.7485G>T	XP_005263495.1:p.Lys2495Asn
XM_017000900.1:c.6804G>T	XP_016856389.1:p.Lys2268Asn
XM_017000901.1:c.6237G>T	XP_016856390.1:p.Lys2079Asn
XM_024446187.1:c.7485G>T	XP_024301955.1:p.Lys2495Asn
XR_001737087.1:n.7523G>T
NM_004958.4:c.7485G>T MANE Select	NP_004949.1:p.Lys2495Asn
NM_001386500.1:c.7485G>T	NP_001373429.1:p.Lys2495Asn
NM_001386501.1:c.6237G>T	NP_001373430.1:p.Lys2079Asn