Canonical Allele Identifier: CA16602798
Community Standard Title: NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser)
Gene: MTOR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11124523G>A , CM000663.2:g.11124523G>A GRCh38
NC_000001.10:g.11184580G>A , CM000663.1:g.11184580G>A GRCh37
NC_000001.9:g.11107167G>A NCBI36
NG_033239.1:g.143029C>T , LRG_734:g.143029C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.6637C>T MANE Select NP_004949.1:p.Pro2213Ser
ENST00000361445.9:c.6637C>T MANE Select ENSP00000354558.4:p.Pro2213Ser
NM_001386500.1:c.6637C>T NP_001373429.1:p.Pro2213Ser
NM_001386501.1:c.5389C>T NP_001373430.1:p.Pro1797Ser
NM_004958.3:c.6637C>T , LRG_734t1:c.6637C>T NP_004949.1:p.Pro2213Ser
ENST00000361445.8:c.6637C>T ENSP00000354558.4:p.Pro2213Ser
ENST00000376838.5:c.1252C>T ENSP00000366034.1:p.Pro418Ser
ENST00000703118.1:c.*2012C>T ENSP00000515181.1:n.*2012C>T
ENST00000703131.1:n.2638C>T
ENST00000703139.1:c.1274C>T
ENST00000703140.1:c.6424C>T ENSP00000515197.1:p.Pro2142Ser
ENST00000703141.1:c.*2154C>T ENSP00000515198.1:n.*2154C>T
ENST00000703142.1:c.*3467C>T ENSP00000515199.1:n.*3467C>T
XM_005263438.1:c.6637C>T XP_005263495.1:p.Pro2213Ser
XM_005263438.2:c.6637C>T XP_005263495.1:p.Pro2213Ser
XM_017000900.1:c.5956C>T XP_016856389.1:p.Pro1986Ser
XM_017000901.1:c.5389C>T XP_016856390.1:p.Pro1797Ser
XM_024446187.1:c.6637C>T XP_024301955.1:p.Pro2213Ser
XR_001737087.1:n.6758C>T
XR_244786.1:n.6758C>T
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