Canonical Allele Identifier: CA338378612

Gene: MTOR

Linked Data

• ClinVar Variation Id: 2693951
• ClinVar RCV Id: RCV003543920
• dbSNP Id: rs1641738324
• MyVariant Identifiers: chr1:g.11169378C>G (hg19) ; chr1:g.11109321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109321C>G , CM000663.2:g.11109321C>G	GRCh38
NC_000001.10:g.11169378C>G , CM000663.1:g.11169378C>G	GRCh37
NC_000001.9:g.11091965C>G	NCBI36
NG_033239.1:g.158231G>C , LRG_734:g.158231G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2872G>C	ENSP00000515181.1:n.*2872G>C
ENST00000703131.1:n.3415G>C
ENST00000703139.1:c.2285G>C
ENST00000703140.1:c.7284G>C	ENSP00000515197.1:p.Gln2428His
ENST00000703141.1:c.*3014G>C	ENSP00000515198.1:n.*3014G>C
ENST00000703142.1:c.*4327G>C	ENSP00000515199.1:n.*4327G>C
ENST00000361445.9:c.7497G>C MANE Select	ENSP00000354558.4:p.Gln2499His
ENST00000361445.8:c.7497G>C	ENSP00000354558.4:p.Gln2499His
ENST00000376838.5:c.2112G>C	ENSP00000366034.1:p.Gln704His
ENST00000455339.1:c.465G>C	ENSP00000398745.1:p.Gln155His
ENST00000473471.5:n.509G>C
ENST00000490931.1:n.780G>C
NM_004958.3:c.7497G>C , LRG_734t1:c.7497G>C	NP_004949.1:p.Gln2499His
XM_005263438.1:c.7497G>C	XP_005263495.1:p.Gln2499His
XM_005263438.2:c.7497G>C	XP_005263495.1:p.Gln2499His
XM_017000900.1:c.6816G>C	XP_016856389.1:p.Gln2272His
XM_017000901.1:c.6249G>C	XP_016856390.1:p.Gln2083His
XM_024446187.1:c.7497G>C	XP_024301955.1:p.Gln2499His
XR_001737087.1:n.7535G>C
NM_004958.4:c.7497G>C MANE Select	NP_004949.1:p.Gln2499His
NM_001386500.1:c.7497G>C	NP_001373429.1:p.Gln2499His
NM_001386501.1:c.6249G>C	NP_001373430.1:p.Gln2083His