Canonical Allele Identifier: CA338394480

Gene: MTOR

Linked Data

• ClinVar Variation Id: 3065018
• ClinVar RCV Id: RCV003990095
• MyVariant Identifiers: chr1:g.11188105T>C (hg19) ; chr1:g.11128048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11128048T>C , CM000663.2:g.11128048T>C	GRCh38
NC_000001.10:g.11188105T>C , CM000663.1:g.11188105T>C	GRCh37
NC_000001.9:g.11110692T>C	NCBI36
NG_033239.1:g.139504A>G , LRG_734:g.139504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*1364A>G	ENSP00000515181.1:n.*1364A>G
ENST00000703131.1:n.1793A>G
ENST00000703139.1:c.626A>G
ENST00000703140.1:c.5776A>G	ENSP00000515197.1:p.Asn1926Asp
ENST00000703141.1:c.*1309A>G	ENSP00000515198.1:n.*1309A>G
ENST00000703142.1:c.*2819A>G	ENSP00000515199.1:n.*2819A>G
ENST00000361445.9:c.5989A>G MANE Select	ENSP00000354558.4:p.Asn1997Asp
ENST00000361445.8:c.5989A>G	ENSP00000354558.4:p.Asn1997Asp
ENST00000376838.5:c.604A>G	ENSP00000366034.1:p.Asn202Asp
NM_004958.3:c.5989A>G , LRG_734t1:c.5989A>G	NP_004949.1:p.Asn1997Asp
XM_005263438.1:c.5989A>G	XP_005263495.1:p.Asn1997Asp
XR_244786.1:n.6110A>G
XM_005263438.2:c.5989A>G	XP_005263495.1:p.Asn1997Asp
XM_017000900.1:c.5308A>G	XP_016856389.1:p.Asn1770Asp
XM_017000901.1:c.4741A>G	XP_016856390.1:p.Asn1581Asp
XM_024446187.1:c.5989A>G	XP_024301955.1:p.Asn1997Asp
XR_001737087.1:n.6110A>G
NM_004958.4:c.5989A>G MANE Select	NP_004949.1:p.Asn1997Asp
NM_001386500.1:c.5989A>G	NP_001373429.1:p.Asn1997Asp
NM_001386501.1:c.4741A>G	NP_001373430.1:p.Asn1581Asp