Canonical Allele Identifier: CA412879096
Community Standard Title: NM_006044.4(HDAC6):c.2090C>T (p.Thr697Ile)
Gene: HDAC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48818315C>T , CM000685.2:g.48818315C>T GRCh38
NC_000023.10:g.48676722C>T , CM000685.1:g.48676722C>T GRCh37
NC_000023.9:g.48561666C>T NCBI36
NG_012560.1:g.21236C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006044.4:c.2090C>T MANE Select NP_006035.2:p.Thr697Ile
ENST00000334136.11:c.2090C>T MANE Select ENSP00000334061.5:p.Thr697Ile
NM_001321225.1:c.2132C>T NP_001308154.1:p.Thr711Ile
NM_001321225.2:c.2132C>T NP_001308154.1:p.Thr711Ile
NM_001321226.1:c.2090C>T NP_001308155.1:p.Thr697Ile
NM_001321226.2:c.2090C>T NP_001308155.1:p.Thr697Ile
NM_001321227.1:c.2090C>T NP_001308156.1:p.Thr697Ile
NM_001321227.2:c.2090C>T NP_001308156.1:p.Thr697Ile
NM_001321228.1:c.2090C>T NP_001308157.1:p.Thr697Ile
NM_001321228.2:c.2090C>T NP_001308157.1:p.Thr697Ile
NM_001321229.1:c.2090C>T NP_001308158.1:p.Thr697Ile
NM_006044.2:c.2090C>T NP_006035.2:p.Thr697Ile
NM_006044.3:c.2090C>T NP_006035.2:p.Thr697Ile
NR_135591.1:n.2024+206C>T
ENST00000334136.9:c.2090C>T ENSP00000334061.5:p.Thr697Ile
ENST00000376610.7:c.2090C>T ENSP00000365795.3:p.Thr697Ile
ENST00000376619.6:c.2090C>T ENSP00000365804.2:p.Thr697Ile
ENST00000376619.7:c.2090C>T ENSP00000365804.2:p.Thr697Ile
ENST00000376643.7:c.2090C>T ENSP00000365831.3:p.Thr697Ile
ENST00000423941.6:c.2090C>T ENSP00000392815.2:p.Thr697Ile
ENST00000430858.2:n.2271+206C>T
ENST00000440653.2:c.2090C>T ENSP00000394377.2:p.Thr697Ile
ENST00000443563.6:c.2090C>T ENSP00000402751.2:p.Thr697Ile
ENST00000469223.6:c.1925C>T ENSP00000513127.1:p.Thr642Ile
ENST00000470942.1:n.473C>T
ENST00000477528.5:n.2904C>T
ENST00000477561.6:c.1925C>T ENSP00000513130.1:p.Thr642Ile
ENST00000480525.5:n.39+206C>T
ENST00000480525.6:c.1994+206C>T ENSP00000495932.2:n.1994+206C>T
ENST00000483506.2:n.569+206C>T
ENST00000483656.6:n.2696C>T
ENST00000486227.5:n.2796C>T
ENST00000486665.5:n.426C>T
ENST00000486665.6:n.2140C>T
ENST00000488543.2:n.2192C>T
ENST00000498808.5:n.73+206C>T
ENST00000498808.6:n.3C>T
ENST00000498808.7:c.2090C>T ENSP00000513201.1:p.Thr697Ile
ENST00000642405.2:c.2021C>T ENSP00000494293.2:p.Thr674Ile
ENST00000643374.1:c.2090C>T ENSP00000496046.1:p.Thr697Ile
ENST00000643374.2:c.2090C>T ENSP00000496046.1:p.Thr697Ile
ENST00000643659.1:n.3443C>T
ENST00000643934.1:c.1925C>T ENSP00000494503.1:p.Thr642Ile
ENST00000644068.1:c.2090C>T ENSP00000496013.1:p.Thr697Ile
ENST00000644164.2:n.2529C>T
ENST00000645643.1:c.367+206C>T
ENST00000645643.2:n.2619+206C>T
ENST00000646703.2:c.1124C>T ENSP00000493921.2:p.Thr375Ile
ENST00000647398.1:c.2021+206C>T
ENST00000647398.2:c.*1690+206C>T ENSP00000494230.2:n.*1690+206C>T
ENST00000697246.1:n.2793+206C>T
ENST00000697269.1:n.2329C>T
ENST00000697281.1:n.2910+206C>T
ENST00000697319.1:n.2236+206C>T
ENST00000697320.1:c.1925C>T ENSP00000513249.1:p.Thr642Ile
ENST00000697328.1:c.1769C>T ENSP00000513257.1:p.Thr590Ile
ENST00000697347.1:n.3890C>T
ENST00000697349.1:c.2078C>T ENSP00000513274.1:p.Thr693Ile
ENST00000697368.1:c.2090C>T ENSP00000513280.1:p.Thr697Ile
ENST00000697369.1:n.2487+206C>T
ENST00000697370.1:n.3167C>T
ENST00000697372.1:n.2685C>T
ENST00000697373.1:n.3253+206C>T
ENST00000697385.1:n.3177C>T
ENST00000697386.1:n.2368+206C>T
ENST00000697387.1:n.2605+206C>T
ENST00000697388.1:n.3029C>T
ENST00000697389.1:n.3354C>T
ENST00000697417.2:n.3424C>T
ENST00000697418.1:n.2478+206C>T
ENST00000697552.1:n.2761C>T
ENST00000697553.1:n.2512C>T
ENST00000697554.1:n.2495C>T
ENST00000697852.1:n.3344+206C>T
ENST00000697885.1:n.2669+206C>T
ENST00000697886.1:c.1994+206C>T ENSP00000513468.1:n.1994+206C>T
ENST00000697887.1:n.2428+206C>T
ENST00000697888.1:n.2766+206C>T
ENST00000697889.1:n.3142+206C>T
ENST00000697890.1:n.2364+206C>T
ENST00000697891.1:n.2536+206C>T
ENST00000697892.1:n.2789+206C>T
ENST00000697893.1:n.3461C>T
ENST00000697894.1:n.2867C>T
ENST00000697895.1:n.2632C>T
ENST00000697896.1:n.2524C>T
XM_005272564.2:c.2132C>T XP_005272621.2:p.Thr711Ile
XM_005272565.1:c.2090C>T XP_005272622.1:p.Thr697Ile
XM_005272566.2:c.2090C>T XP_005272623.1:p.Thr697Ile
XM_005272568.1:c.2090C>T XP_005272625.1:p.Thr697Ile
XM_006724525.1:c.2090C>T XP_006724588.1:p.Thr697Ile
XM_017029187.1:c.*33+206C>T XP_016884676.1:n.*33+206C>T
XR_001755632.2:n.2100+206C>T
XR_002958755.1:n.2073+206C>T
XR_002958756.1:n.2035C>T
XR_002958757.1:n.1939+206C>T
XR_246712.2:n.2073+206C>T
XR_949014.1:n.2073+206C>T