Canonical Allele Identifier: CA4375163

Gene: AP4M1 TAF6

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100107511G>T , CM000669.2:g.100107511G>T	GRCh38
NC_000007.13:g.99705134G>T , CM000669.1:g.99705134G>T	GRCh37
NC_000007.12:g.99543070G>T	NCBI36
NG_016312.1:g.11005G>T
NG_029454.1:g.17348C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.*629G>T (AP4M1) MANE Select	NP_004713.2:n.*629G>T
NM_139315.3:c.1769C>A (TAF6) MANE Select	NP_647476.1:p.Thr590Asn
ENST00000359593.9:c.*629G>T (AP4M1) MANE Select	ENSP00000352603.4:n.*629G>T
ENST00000453269.7:c.1769C>A (TAF6) MANE Select	ENSP00000389575.2:p.Thr590Asn
NM_001190415.1:c.1880C>A (TAF6)	NP_001177344.1:p.Thr627Asn
NM_001190415.2:c.1880C>A (TAF6)	NP_001177344.1:p.Thr627Asn
NM_001363671.2:c.*629G>T (AP4M1)	NP_001350600.1:n.*629G>T
NM_001364998.1:c.1769C>A (TAF6)	NP_001351927.1:p.Thr590Asn
NM_001364999.1:c.1769C>A (TAF6)	NP_001351928.1:p.Thr590Asn
NM_001365000.1:c.1739C>A (TAF6)	NP_001351929.1:p.Thr580Asn
NM_001365001.1:c.1739C>A (TAF6)	NP_001351930.1:p.Thr580Asn
NM_001365002.1:c.1739C>A (TAF6)	NP_001351931.1:p.Thr580Asn
NM_001365003.1:c.1739C>A (TAF6)	NP_001351932.1:p.Thr580Asn
NM_001365004.1:c.1907C>A (TAF6)	NP_001351933.1:p.Thr636Asn
NM_005641.3:c.1769C>A (TAF6)	NP_005632.1:p.Thr590Asn
NM_005641.4:c.1769C>A (TAF6)	NP_005632.1:p.Thr590Asn
NM_139315.2:c.1769C>A (TAF6)	NP_647476.1:p.Thr590Asn
NR_033792.1:n.1872C>A (TAF6)
NR_033792.2:n.1858C>A (TAF6)
ENST00000344095.8:c.1769C>A (TAF6)	ENSP00000344537.4:p.Thr590Asn
ENST00000416938.5:c.1880G>T (AP4M1)
ENST00000421755.5:c.*30+599G>T (AP4M1)	ENSP00000412185.1:n.*30+599G>T
ENST00000421980.5:c.*1360C>A (TAF6)	ENSP00000413614.1:n.*1360C>A
ENST00000437822.6:c.1880C>A (TAF6)	ENSP00000399982.2:p.Thr627Asn
ENST00000440225.6:c.1595C>A (TAF6)	ENSP00000410012.2:p.Thr532Asn
ENST00000450807.5:c.393+997G>T (AP4M1)	ENSP00000391585.1:n.393+997G>T
ENST00000451699.6:c.1595C>A (TAF6)	ENSP00000406315.2:p.Thr532Asn
ENST00000452041.5:c.1769C>A (TAF6)	ENSP00000416396.1:p.Thr590Asn
ENST00000452438.7:c.1712C>A (TAF6)	ENSP00000412346.3:p.Thr571Asn
ENST00000453269.6:c.1769C>A (TAF6)	ENSP00000389575.2:p.Thr590Asn
ENST00000460673.3:c.1769C>A (TAF6)	ENSP00000427710.3:p.Thr590Asn
ENST00000472509.5:c.1940C>A (TAF6)	ENSP00000419760.1:p.Thr647Asn
ENST00000472509.6:c.1769C>A (TAF6)	ENSP00000419760.2:p.Thr590Asn
ENST00000487115.2:n.1324C>A (TAF6)
ENST00000487288.2:n.2261C>A (TAF6)
ENST00000493322.6:c.1571C>A (TAF6)	ENSP00000419555.2:p.Thr524Asn
ENST00000495154.2:n.2250G>T (AP4M1)
ENST00000523306.6:c.1571C>A (TAF6)	ENSP00000428639.2:p.Thr524Asn
ENST00000684938.1:c.*1360C>A (TAF6)	ENSP00000509829.1:n.*1360C>A
ENST00000684951.1:n.2649C>A (TAF6)
ENST00000685054.1:n.2233C>A (TAF6)
ENST00000685258.1:n.2842C>A (TAF6)
ENST00000685280.1:c.1769C>A (TAF6)	ENSP00000510209.1:p.Thr590Asn
ENST00000685713.1:c.*861C>A (TAF6)	ENSP00000509921.1:n.*861C>A
ENST00000686096.1:c.*1360C>A (TAF6)	ENSP00000510627.1:n.*1360C>A
ENST00000686141.1:c.*961C>A (TAF6)	ENSP00000509002.1:n.*961C>A
ENST00000686172.1:c.1739C>A (TAF6)	ENSP00000510809.1:p.Thr580Asn
ENST00000686580.1:c.1769C>A (TAF6)	ENSP00000510270.1:p.Thr590Asn
ENST00000686777.1:c.1769C>A (TAF6)	ENSP00000510166.1:p.Thr590Asn
ENST00000687137.1:c.1769C>A (TAF6)	ENSP00000508432.1:p.Thr590Asn
ENST00000687151.1:c.1739C>A (TAF6)	ENSP00000508852.1:p.Thr580Asn
ENST00000687216.1:c.1712C>A (TAF6)	ENSP00000509789.1:p.Thr571Asn
ENST00000687410.1:c.1769C>A (TAF6)	ENSP00000509158.1:p.Thr590Asn
ENST00000687447.1:c.1769C>A (TAF6)	ENSP00000510217.1:p.Thr590Asn
ENST00000687672.1:c.1739C>A (TAF6)	ENSP00000509741.1:p.Thr580Asn
ENST00000687768.1:n.2296C>A (TAF6)
ENST00000687969.1:c.1769C>A (TAF6)	ENSP00000508679.1:p.Thr590Asn
ENST00000688086.1:c.1712C>A (TAF6)	ENSP00000510349.1:p.Thr571Asn
ENST00000688091.1:c.*1360C>A (TAF6)	ENSP00000510079.1:n.*1360C>A
ENST00000688197.1:n.2313C>A (TAF6)
ENST00000688343.1:c.1769C>A (TAF6)	ENSP00000508691.1:p.Thr590Asn
ENST00000688498.1:c.1769C>A (TAF6)	ENSP00000510409.1:p.Thr590Asn
ENST00000688640.1:c.1769C>A (TAF6)	ENSP00000509783.1:p.Thr590Asn
ENST00000688962.1:n.2858C>A (TAF6)
ENST00000689052.1:n.2472C>A (TAF6)
ENST00000689284.1:c.1712C>A (TAF6)	ENSP00000509292.1:p.Thr571Asn
ENST00000689347.1:n.3126C>A (TAF6)
ENST00000689536.1:n.2431C>A (TAF6)
ENST00000689684.1:c.*1360C>A (TAF6)	ENSP00000508474.1:n.*1360C>A
ENST00000689754.1:c.1769C>A (TAF6)	ENSP00000509866.1:p.Thr590Asn
ENST00000689866.1:c.*1360C>A (TAF6)	ENSP00000509889.1:n.*1360C>A
ENST00000690206.1:c.1682C>A (TAF6)	ENSP00000508601.1:p.Thr561Asn
ENST00000690291.1:n.2515C>A (TAF6)
ENST00000690335.1:n.2980C>A (TAF6)
ENST00000690367.1:c.1739C>A (TAF6)	ENSP00000509821.1:p.Thr580Asn
ENST00000690602.1:c.*1360C>A (TAF6)	ENSP00000509383.1:n.*1360C>A
ENST00000690962.1:c.1742C>A (TAF6)	ENSP00000509249.1:p.Thr581Asn
ENST00000691010.1:c.1739C>A (TAF6)	ENSP00000509320.1:p.Thr580Asn
ENST00000691370.1:c.1769C>A (TAF6)	ENSP00000509500.1:p.Thr590Asn
ENST00000691413.1:c.1712C>A (TAF6)	ENSP00000509680.1:p.Thr571Asn
ENST00000691534.1:c.*1486C>A (TAF6)	ENSP00000510612.1:n.*1486C>A
ENST00000691681.1:c.1769C>A (TAF6)	ENSP00000509494.1:p.Thr590Asn
ENST00000692029.1:c.*1486C>A (TAF6)	ENSP00000510260.1:n.*1486C>A
ENST00000692175.1:n.2607C>A (TAF6)
ENST00000692408.1:c.1739C>A (TAF6)	ENSP00000508788.1:p.Thr580Asn
ENST00000692466.1:c.1769C>A (TAF6)	ENSP00000509041.1:p.Thr590Asn
ENST00000692927.1:c.1769C>A (TAF6)	ENSP00000509335.1:p.Thr590Asn
ENST00000693225.1:c.1712C>A (TAF6)	ENSP00000510019.1:p.Thr571Asn
ENST00000693256.1:n.2228C>A (TAF6)
ENST00000693374.1:n.2103C>A (TAF6)
ENST00000713591.1:c.*629G>T (AP4M1)	ENSP00000518888.1:n.*629G>T
XM_006716100.1:c.1769C>A (TAF6)	XP_006716163.1:p.Thr590Asn
XM_006716101.1:c.1739C>A (TAF6)	XP_006716164.1:p.Thr580Asn
XM_006716102.1:c.1739C>A (TAF6)	XP_006716165.1:p.Thr580Asn
XM_011516542.1:c.1739C>A (TAF6)	XP_011514844.1:p.Thr580Asn
XM_011516543.1:c.1739C>A (TAF6)	XP_011514845.1:p.Thr580Asn
XM_011516543.3:c.1739C>A (TAF6)	XP_011514845.1:p.Thr580Asn
XM_024446896.1:c.1769C>A (TAF6)	XP_024302664.1:p.Thr590Asn
XM_024446899.1:c.1916C>A (TAF6)	XP_024302667.1:p.Thr639Asn
XM_024446900.1:c.1769C>A (TAF6)	XP_024302668.1:p.Thr590Asn