Canonical Allele Identifier: CA338371509

Gene: MTOR

Linked Data

• gnomAD v4: 1-11157162-A-C
• MyVariant Identifiers: chr1:g.11217219A>C (hg19) ; chr1:g.11157162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11157162A>C , CM000663.2:g.11157162A>C	GRCh38
NC_000001.10:g.11217219A>C , CM000663.1:g.11217219A>C	GRCh37
NC_000001.9:g.11139806A>C	NCBI36
NG_033239.1:g.110390T>G , LRG_734:g.110390T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.4459T>G	ENSP00000515181.1:p.Leu1487Val
ENST00000703131.1:n.379T>G
ENST00000703140.1:c.4246T>G	ENSP00000515197.1:p.Leu1416Val
ENST00000703141.1:c.4459T>G	ENSP00000515198.1:p.Leu1487Val
ENST00000703142.1:c.*1289T>G	ENSP00000515199.1:n.*1289T>G
ENST00000361445.9:c.4459T>G MANE Select	ENSP00000354558.4:p.Leu1487Val
ENST00000361445.8:c.4459T>G	ENSP00000354558.4:p.Leu1487Val
NM_004958.3:c.4459T>G , LRG_734t1:c.4459T>G	NP_004949.1:p.Leu1487Val
XM_005263438.1:c.4459T>G	XP_005263495.1:p.Leu1487Val
XM_011541166.1:c.4459T>G	XP_011539468.1:p.Leu1487Val
XR_244786.1:n.4580T>G
XM_005263438.2:c.4459T>G	XP_005263495.1:p.Leu1487Val
XM_011541166.2:c.4459T>G	XP_011539468.1:p.Leu1487Val
XM_017000900.1:c.3778T>G	XP_016856389.1:p.Leu1260Val
XM_017000901.1:c.3211T>G	XP_016856390.1:p.Leu1071Val
XM_024446187.1:c.4459T>G	XP_024301955.1:p.Leu1487Val
XR_001737087.1:n.4580T>G
NM_004958.4:c.4459T>G MANE Select	NP_004949.1:p.Leu1487Val
NM_001386500.1:c.4459T>G	NP_001373429.1:p.Leu1487Val
NM_001386501.1:c.3211T>G	NP_001373430.1:p.Leu1071Val