Canonical Allele Identifier: CA200967
Community Standard Title: NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met)
Gene: MTMR14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9684904C>T , CM000665.2:g.9684904C>T GRCh38
NC_000003.11:g.9726588C>T , CM000665.1:g.9726588C>T GRCh37
NC_000003.10:g.9701588C>T NCBI36
NG_017068.1:g.40472C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001077525.3:c.1067C>T MANE Select NP_001070993.1:p.Thr356Met
ENST00000296003.9:c.1067C>T MANE Select ENSP00000296003.5:p.Thr356Met
NM_001077525.2:c.1067C>T NP_001070993.1:p.Thr356Met
NM_001077526.2:c.1067C>T NP_001070994.1:p.Thr356Met
NM_001077526.3:c.1067C>T NP_001070994.1:p.Thr356Met
NM_001400518.1:c.1136C>T NP_001387447.1:p.Thr379Met
NM_001400519.1:c.1064C>T NP_001387448.1:p.Thr355Met
NM_001400520.1:c.992C>T NP_001387449.1:p.Thr331Met
NM_001400521.1:c.1136C>T NP_001387450.1:p.Thr379Met
NM_001400522.1:c.1064C>T NP_001387451.1:p.Thr355Met
NM_001400523.1:c.992C>T NP_001387452.1:p.Thr331Met
NM_001400524.1:c.821C>T NP_001387453.1:p.Thr274Met
NM_001400525.1:c.785C>T NP_001387454.1:p.Thr262Met
NM_001400526.1:c.1061C>T NP_001387455.1:p.Thr354Met
NM_001400527.1:c.821C>T NP_001387456.1:p.Thr274Met
NM_001400528.1:c.992C>T NP_001387457.1:p.Thr331Met
NM_001400529.1:c.785C>T NP_001387458.1:p.Thr262Met
NM_001400530.1:c.821C>T NP_001387459.1:p.Thr274Met
NM_001400531.1:c.818C>T NP_001387460.1:p.Thr273Met
NM_001400532.1:c.785C>T NP_001387461.1:p.Thr262Met
NM_001400533.1:c.425C>T NP_001387462.1:p.Thr142Met
NM_001400534.1:c.425C>T NP_001387463.1:p.Thr142Met
NM_001400535.1:c.425C>T NP_001387464.1:p.Thr142Met
NM_001400536.1:c.746C>T NP_001387465.1:p.Thr249Met
NM_001400537.1:c.710C>T NP_001387466.1:p.Thr237Met
NM_001400538.1:c.350C>T NP_001387467.1:p.Thr117Met
NM_001400539.1:c.425C>T NP_001387468.1:p.Thr142Met
NM_001400540.1:c.425C>T NP_001387469.1:p.Thr142Met
NM_001400541.1:c.425C>T NP_001387470.1:p.Thr142Met
NM_001400542.1:c.425C>T NP_001387471.1:p.Thr142Met
NM_001400543.1:c.425C>T NP_001387472.1:p.Thr142Met
NM_001400544.1:c.206C>T NP_001387473.1:p.Thr69Met
NM_001400545.1:c.425C>T NP_001387474.1:p.Thr142Met
NM_001400546.1:c.425C>T NP_001387475.1:p.Thr142Met
NM_001400547.1:c.206C>T NP_001387476.1:p.Thr69Met
NM_001400548.1:c.206C>T NP_001387477.1:p.Thr69Met
NM_001400549.1:c.350C>T NP_001387478.1:p.Thr117Met
NM_001400550.1:c.206C>T NP_001387479.1:p.Thr69Met
NM_022485.4:c.1067C>T NP_071930.2:p.Thr356Met
NM_022485.5:c.1067C>T NP_071930.2:p.Thr356Met
NR_174503.1:n.1071C>T
NR_174504.1:n.1146C>T
NR_174505.1:n.754C>T
NR_174506.1:n.934C>T
NR_174507.1:n.1000C>T
NR_174508.1:n.1000C>T
NR_174509.1:n.900C>T
NR_174510.1:n.997C>T
NR_174511.1:n.1070C>T
ENST00000296003.8:c.1067C>T ENSP00000296003.4:p.Thr356Met
ENST00000351233.9:c.1067C>T ENSP00000334070.7:p.Thr356Met
ENST00000353332.9:c.1067C>T ENSP00000323462.8:p.Thr356Met
ENST00000414996.1:c.*424C>T ENSP00000392935.1:n.*424C>T
ENST00000420925.5:c.329C>T ENSP00000401993.1:p.Thr110Met
ENST00000431250.1:c.383C>T ENSP00000388746.1:p.Thr128Met
ENST00000447144.5:c.*111C>T ENSP00000410761.1:n.*111C>T
ENST00000617504.4:c.1067C>T ENSP00000478236.1:p.Thr356Met
XM_005265400.1:c.992C>T XP_005265457.1:p.Thr331Met
XM_005265400.2:c.992C>T XP_005265457.1:p.Thr331Met
XM_011534012.1:c.785C>T XP_011532314.1:p.Thr262Met
XM_011534013.1:c.704C>T XP_011532315.1:p.Thr235Met
XM_017007034.1:c.1136C>T XP_016862523.1:p.Thr379Met
XM_017007035.1:c.1061C>T XP_016862524.1:p.Thr354Met
XM_017007036.1:c.1136C>T XP_016862525.1:p.Thr379Met
XM_017007037.1:c.1061C>T XP_016862526.1:p.Thr354Met
XM_017007038.2:c.992C>T XP_016862527.1:p.Thr331Met
XM_017007039.1:c.1136C>T XP_016862528.1:p.Thr379Met
XM_017007040.1:c.1061C>T XP_016862529.1:p.Thr354Met
XM_017007041.1:c.710C>T XP_016862530.1:p.Thr237Met
XM_017007042.2:c.992C>T XP_016862531.1:p.Thr331Met
XM_017007043.1:c.785C>T XP_016862532.1:p.Thr262Met
XM_017007044.2:c.350C>T XP_016862533.1:p.Thr117Met
XM_017007045.2:c.425C>T XP_016862534.1:p.Thr142Met
XM_024453709.1:c.704C>T XP_024309477.1:p.Thr235Met
XM_024453710.1:c.425C>T XP_024309478.1:p.Thr142Met
XR_001740231.1:n.1387C>T
XR_001740232.1:n.1313C>T
XR_001740233.2:n.1103C>T
XR_245152.1:n.1191C>T
XR_245152.2:n.1178C>T