Canonical Allele Identifier: CA17927850

Gene: MTOR

Linked Data

• dbSNP Id: rs1036378834
• gnomAD v3: 1-11109228-C-A
• gnomAD v4: 1-11109228-C-A
• MyVariant Identifiers: chr1:g.11169285C>A (hg19) ; chr1:g.11109228C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109228C>A , CM000663.2:g.11109228C>A	GRCh38
NC_000001.10:g.11169285C>A , CM000663.1:g.11169285C>A	GRCh37
NC_000001.9:g.11091872C>A	NCBI36
NG_033239.1:g.158324G>T , LRG_734:g.158324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2903+62G>T	ENSP00000515181.1:n.*2903+62G>T
ENST00000703131.1:n.3446+62G>T
ENST00000703139.1:c.2316+62G>T
ENST00000703140.1:c.7315+62G>T	ENSP00000515197.1:n.7315+62G>T
ENST00000703141.1:c.*3045+62G>T	ENSP00000515198.1:n.*3045+62G>T
ENST00000703142.1:c.*4358+62G>T	ENSP00000515199.1:n.*4358+62G>T
ENST00000361445.9:c.7528+62G>T MANE Select	ENSP00000354558.4:n.7528+62G>T
ENST00000361445.8:c.7528+62G>T	ENSP00000354558.4:n.7528+62G>T
ENST00000376838.5:c.2143+62G>T	ENSP00000366034.1:n.2143+62G>T
ENST00000473471.5:n.540+62G>T
ENST00000490931.1:n.811+62G>T
NM_004958.3:c.7528+62G>T , LRG_734t1:c.7528+62G>T	NP_004949.1:n.7528+62G>T
XM_005263438.1:c.7528+62G>T	XP_005263495.1:n.7528+62G>T
XM_005263438.2:c.7528+62G>T	XP_005263495.1:n.7528+62G>T
XM_017000900.1:c.6847+62G>T	XP_016856389.1:n.6847+62G>T
XM_017000901.1:c.6280+62G>T	XP_016856390.1:n.6280+62G>T
XM_024446187.1:c.7528+62G>T	XP_024301955.1:n.7528+62G>T
XR_001737087.1:n.7566+62G>T
NM_004958.4:c.7528+62G>T MANE Select	NP_004949.1:n.7528+62G>T
NM_001386500.1:c.7528+62G>T	NP_001373429.1:n.7528+62G>T
NM_001386501.1:c.6280+62G>T	NP_001373430.1:n.6280+62G>T