Canonical Allele Identifier: CA372471093

Gene: EEF1D

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143581053C>T , CM000670.2:g.143581053C>T	GRCh38
NC_000008.10:g.144663223C>T , CM000670.1:g.144663223C>T	GRCh37
NC_000008.9:g.144734366C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001130053.5:c.1488+1G>A MANE Select	NP_001123525.3:n.1488+1G>A
ENST00000618139.4:c.1488+1G>A MANE Select	ENSP00000484536.2:n.1488+1G>A
NM_001130053.2:c.1488+1G>A	NP_001123525.2:n.1488+1G>A
NM_001130053.3:c.1488+1G>A	NP_001123525.2:n.1488+1G>A
NM_001130053.4:c.1488+1G>A	NP_001123525.3:n.1488+1G>A
NM_001130055.2:c.390+1G>A	NP_001123527.1:n.390+1G>A
NM_001130055.3:c.390+1G>A	NP_001123527.1:n.390+1G>A
NM_001130055.4:c.390+1G>A	NP_001123527.1:n.390+1G>A
NM_001130056.2:c.318+1G>A	NP_001123528.1:n.318+1G>A
NM_001130056.3:c.318+1G>A	NP_001123528.1:n.318+1G>A
NM_001130056.4:c.318+1G>A	NP_001123528.1:n.318+1G>A
NM_001130056.5:c.318+1G>A	NP_001123528.1:n.318+1G>A
NM_001130057.2:c.390+1G>A	NP_001123529.1:n.390+1G>A
NM_001130057.3:c.390+1G>A	NP_001123529.1:n.390+1G>A
NM_001130057.4:c.390+1G>A	NP_001123529.1:n.390+1G>A
NM_001195203.1:c.333+1G>A	NP_001182132.1:n.333+1G>A
NM_001195203.2:c.333+1G>A	NP_001182132.1:n.333+1G>A
NM_001195203.3:c.333+1G>A	NP_001182132.1:n.333+1G>A
NM_001195203.4:c.333+1G>A	NP_001182132.1:n.333+1G>A
NM_001289950.1:c.390+1G>A	NP_001276879.1:n.390+1G>A
NM_001289950.2:c.390+1G>A	NP_001276879.1:n.390+1G>A
NM_001289950.3:c.390+1G>A	NP_001276879.1:n.390+1G>A
NM_001289950.4:c.390+1G>A	NP_001276879.1:n.390+1G>A
NM_001317743.2:c.318+1G>A	NP_001304672.1:n.318+1G>A
NM_001317743.3:c.318+1G>A	NP_001304672.1:n.318+1G>A
NM_001317743.4:c.318+1G>A	NP_001304672.1:n.318+1G>A
NM_001330646.1:c.318+1G>A	NP_001317575.1:n.318+1G>A
NM_001330646.2:c.318+1G>A	NP_001317575.1:n.318+1G>A
NM_001330646.3:c.318+1G>A	NP_001317575.1:n.318+1G>A
NM_001960.4:c.390+1G>A	NP_001951.2:n.390+1G>A
NM_001960.5:c.390+1G>A	NP_001951.2:n.390+1G>A
NM_001960.6:c.390+1G>A	NP_001951.2:n.390+1G>A
NM_001960.7:c.390+1G>A	NP_001951.2:n.390+1G>A
NM_032378.4:c.1488+1G>A	NP_115754.3:n.1488+1G>A
NM_032378.5:c.1488+1G>A	NP_115754.3:n.1488+1G>A
NM_032378.6:c.1488+1G>A	NP_115754.4:n.1488+1G>A
NM_032378.7:c.1488+1G>A	NP_115754.4:n.1488+1G>A
ENST00000317198.10:c.390+1G>A	ENSP00000317399.6:n.390+1G>A
ENST00000395119.7:c.390+1G>A	ENSP00000378551.3:n.390+1G>A
ENST00000419152.6:c.390+1G>A	ENSP00000388261.2:n.390+1G>A
ENST00000419152.7:c.390+1G>A	ENSP00000388261.2:n.390+1G>A
ENST00000423316.6:c.1488+1G>A	ENSP00000410059.2:n.1488+1G>A
ENST00000442189.6:c.1488+1G>A	ENSP00000391944.2:n.1488+1G>A
ENST00000524397.5:c.390+1G>A	ENSP00000437276.1:n.390+1G>A
ENST00000524624.5:c.318+1G>A	ENSP00000435697.1:n.318+1G>A
ENST00000526786.5:n.907+1G>A
ENST00000526838.5:c.333+1G>A	ENSP00000436507.1:n.333+1G>A
ENST00000527741.5:n.3198+1G>A
ENST00000528382.1:c.-123-443G>A	ENSP00000436880.1:n.-123-443G>A
ENST00000528610.5:c.318+1G>A	ENSP00000431763.1:n.318+1G>A
ENST00000529007.5:c.390+1G>A	ENSP00000436045.1:n.390+1G>A
ENST00000529272.5:c.390+1G>A	ENSP00000434872.1:n.390+1G>A
ENST00000529516.5:c.333+1G>A	ENSP00000431742.1:n.333+1G>A
ENST00000529516.6:c.333+1G>A	ENSP00000431742.2:n.333+1G>A
ENST00000530191.5:c.390+1G>A	ENSP00000436542.1:n.390+1G>A
ENST00000530191.6:c.390+1G>A	ENSP00000436542.2:n.390+1G>A
ENST00000530445.5:c.390+1G>A	ENSP00000436933.1:n.390+1G>A
ENST00000530445.6:c.390+1G>A	ENSP00000436933.2:n.390+1G>A
ENST00000530616.5:c.629+1G>A
ENST00000530848.5:n.524+1G>A
ENST00000531218.5:c.390+1G>A	ENSP00000434448.1:n.390+1G>A
ENST00000531218.6:c.390+1G>A	ENSP00000434448.2:n.390+1G>A
ENST00000531621.5:c.261+1G>A	ENSP00000432429.1:n.261+1G>A
ENST00000532400.1:c.93-880G>A	ENSP00000433784.1:n.93-880G>A
ENST00000532741.5:c.1638+1G>A	ENSP00000434070.1:n.1638+1G>A
ENST00000533204.5:c.390+1G>A	ENSP00000434691.1:n.390+1G>A
ENST00000533494.5:c.390+1G>A	ENSP00000433412.1:n.390+1G>A
ENST00000533494.6:c.390+1G>A	ENSP00000433412.2:n.390+1G>A
ENST00000533833.5:c.318+1G>A	ENSP00000432881.1:n.318+1G>A
ENST00000534232.5:n.752+1G>A
ENST00000534377.5:c.318+1G>A	ENSP00000431460.1:n.318+1G>A
ENST00000534377.6:c.318+1G>A	ENSP00000431460.2:n.318+1G>A
ENST00000534380.5:c.390+1G>A	ENSP00000433611.1:n.390+1G>A
ENST00000534380.6:c.390+1G>A	ENSP00000433611.2:n.390+1G>A
ENST00000618139.2:c.1488+1G>A	ENSP00000484536.1:n.1488+1G>A
XM_005250820.2:c.1611+1G>A	XP_005250877.1:n.1611+1G>A
XM_005250820.4:c.1488+1G>A	XP_005250877.2:n.1488+1G>A
XM_005250823.1:c.1488+1G>A	XP_005250880.1:n.1488+1G>A
XM_005250826.2:c.318+1G>A	XP_005250883.1:n.318+1G>A
XM_006716519.2:c.1608+1G>A	XP_006716582.1:n.1608+1G>A
XM_006716519.4:c.1485+1G>A	XP_006716582.2:n.1485+1G>A
XM_006716520.2:c.1539+1G>A	XP_006716583.1:n.1539+1G>A
XM_006716520.4:c.1416+1G>A	XP_006716583.2:n.1416+1G>A
XM_006716522.1:c.1488+1G>A	XP_006716585.1:n.1488+1G>A
XM_006716523.1:c.1488+1G>A	XP_006716586.1:n.1488+1G>A
XM_006716523.2:c.1488+1G>A	XP_006716586.1:n.1488+1G>A
XM_006716524.1:c.1488+1G>A	XP_006716587.1:n.1488+1G>A
XM_006716525.1:c.390+1G>A	XP_006716588.1:n.390+1G>A
XM_011516905.1:c.1488+1G>A	XP_011515207.1:n.1488+1G>A
XM_011516905.2:c.1488+1G>A	XP_011515207.1:n.1488+1G>A
XM_011516906.1:c.1488+1G>A	XP_011515208.1:n.1488+1G>A
XM_011516906.3:c.1488+1G>A	XP_011515208.1:n.1488+1G>A
XM_017013170.2:c.1488+1G>A	XP_016868659.1:n.1488+1G>A
XM_017013171.1:c.1485+1G>A	XP_016868660.1:n.1485+1G>A
XM_017013172.1:c.1416+1G>A	XP_016868661.1:n.1416+1G>A
XM_024447088.1:c.1485+1G>A	XP_024302856.1:n.1485+1G>A
XM_024447089.1:c.1416+1G>A	XP_024302857.1:n.1416+1G>A