Canonical Allele Identifier: CA4375123

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100107331G>A , CM000669.2:g.100107331G>A GRCh38
NC_000007.13:g.99704954G>A , CM000669.1:g.99704954G>A GRCh37
NC_000007.12:g.99542890G>A NCBI36
NG_016312.1:g.10825G>A
NG_029454.1:g.17528C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495154.2:n.2070G>A (AP4M1)
ENST00000713591.1:c.*449G>A (AP4M1) ENSP00000518888.1:n.*449G>A
ENST00000440225.6:c.1775C>T (TAF6) ENSP00000410012.2:p.Ala592Val
ENST00000451699.6:c.1775C>T (TAF6) ENSP00000406315.2:p.Ala592Val
ENST00000452438.7:c.1892C>T (TAF6) ENSP00000412346.3:p.Ala631Val
ENST00000460673.3:c.1949C>T (TAF6) ENSP00000427710.3:p.Ala650Val
ENST00000472509.6:c.1949C>T (TAF6) ENSP00000419760.2:p.Ala650Val
ENST00000487115.2:n.1504C>T (TAF6)
ENST00000487288.2:n.2441C>T (TAF6)
ENST00000493322.6:c.1751C>T (TAF6) ENSP00000419555.2:p.Ala584Val
ENST00000523306.6:c.1751C>T (TAF6) ENSP00000428639.2:p.Ala584Val
ENST00000684938.1:c.*1540C>T (TAF6) ENSP00000509829.1:n.*1540C>T
ENST00000684951.1:n.2829C>T (TAF6)
ENST00000685054.1:n.2413C>T (TAF6)
ENST00000685258.1:n.3022C>T (TAF6)
ENST00000685280.1:c.1949C>T (TAF6) ENSP00000510209.1:p.Ala650Val
ENST00000685713.1:c.*1041C>T (TAF6) ENSP00000509921.1:n.*1041C>T
ENST00000686096.1:c.*1540C>T (TAF6) ENSP00000510627.1:n.*1540C>T
ENST00000686141.1:c.*1141C>T (TAF6) ENSP00000509002.1:n.*1141C>T
ENST00000686172.1:c.1919C>T (TAF6) ENSP00000510809.1:p.Ala640Val
ENST00000686580.1:c.1949C>T (TAF6) ENSP00000510270.1:p.Ala650Val
ENST00000686777.1:c.1949C>T (TAF6) ENSP00000510166.1:p.Ala650Val
ENST00000687137.1:c.1949C>T (TAF6) ENSP00000508432.1:p.Ala650Val
ENST00000687151.1:c.1919C>T (TAF6) ENSP00000508852.1:p.Ala640Val
ENST00000687216.1:c.1892C>T (TAF6) ENSP00000509789.1:p.Ala631Val
ENST00000687410.1:c.1949C>T (TAF6) ENSP00000509158.1:p.Ala650Val
ENST00000687447.1:c.1949C>T (TAF6) ENSP00000510217.1:p.Ala650Val
ENST00000687672.1:c.1919C>T (TAF6) ENSP00000509741.1:p.Ala640Val
ENST00000687768.1:n.2476C>T (TAF6)
ENST00000687969.1:c.1949C>T (TAF6) ENSP00000508679.1:p.Ala650Val
ENST00000688086.1:c.1892C>T (TAF6) ENSP00000510349.1:p.Ala631Val
ENST00000688091.1:c.*1540C>T (TAF6) ENSP00000510079.1:n.*1540C>T
ENST00000688197.1:n.2493C>T (TAF6)
ENST00000688343.1:c.1949C>T (TAF6) ENSP00000508691.1:p.Ala650Val
ENST00000688498.1:c.1949C>T (TAF6) ENSP00000510409.1:p.Ala650Val
ENST00000688640.1:c.1949C>T (TAF6) ENSP00000509783.1:p.Ala650Val
ENST00000688962.1:n.3038C>T (TAF6)
ENST00000689052.1:n.2652C>T (TAF6)
ENST00000689284.1:c.1892C>T (TAF6) ENSP00000509292.1:p.Ala631Val
ENST00000689347.1:n.3306C>T (TAF6)
ENST00000689536.1:n.2611C>T (TAF6)
ENST00000689684.1:c.*1540C>T (TAF6) ENSP00000508474.1:n.*1540C>T
ENST00000689754.1:c.1949C>T (TAF6) ENSP00000509866.1:p.Ala650Val
ENST00000689866.1:c.*1540C>T (TAF6) ENSP00000509889.1:n.*1540C>T
ENST00000690206.1:c.1862C>T (TAF6) ENSP00000508601.1:p.Ala621Val
ENST00000690291.1:n.2695C>T (TAF6)
ENST00000690335.1:n.3160C>T (TAF6)
ENST00000690367.1:c.1919C>T (TAF6) ENSP00000509821.1:p.Ala640Val
ENST00000690602.1:c.*1540C>T (TAF6) ENSP00000509383.1:n.*1540C>T
ENST00000690962.1:c.1922C>T (TAF6) ENSP00000509249.1:p.Ala641Val
ENST00000691010.1:c.1919C>T (TAF6) ENSP00000509320.1:p.Ala640Val
ENST00000691370.1:c.1949C>T (TAF6) ENSP00000509500.1:p.Ala650Val
ENST00000691413.1:c.1892C>T (TAF6) ENSP00000509680.1:p.Ala631Val
ENST00000691534.1:c.*1666C>T (TAF6) ENSP00000510612.1:n.*1666C>T
ENST00000691681.1:c.1949C>T (TAF6) ENSP00000509494.1:p.Ala650Val
ENST00000692029.1:c.*1666C>T (TAF6) ENSP00000510260.1:n.*1666C>T
ENST00000692175.1:n.2787C>T (TAF6)
ENST00000692408.1:c.1919C>T (TAF6) ENSP00000508788.1:p.Ala640Val
ENST00000692466.1:c.1949C>T (TAF6) ENSP00000509041.1:p.Ala650Val
ENST00000692927.1:c.1949C>T (TAF6) ENSP00000509335.1:p.Ala650Val
ENST00000693225.1:c.1892C>T (TAF6) ENSP00000510019.1:p.Ala631Val
ENST00000693256.1:n.2408C>T (TAF6)
ENST00000693374.1:n.2283C>T (TAF6)
ENST00000359593.9:c.*449G>A (AP4M1) MANE Select ENSP00000352603.4:n.*449G>A
ENST00000453269.7:c.1949C>T (TAF6) MANE Select ENSP00000389575.2:p.Ala650Val
ENST00000344095.8:c.1949C>T (TAF6) ENSP00000344537.4:p.Ala650Val
ENST00000416938.5:c.1700G>A (AP4M1)
ENST00000421755.5:c.*30+419G>A (AP4M1) ENSP00000412185.1:n.*30+419G>A
ENST00000421980.5:c.*1540C>T (TAF6) ENSP00000413614.1:n.*1540C>T
ENST00000437822.6:c.2060C>T (TAF6) ENSP00000399982.2:p.Ala687Val
ENST00000450807.5:c.393+817G>A (AP4M1) ENSP00000391585.1:n.393+817G>A
ENST00000452041.5:c.1949C>T (TAF6) ENSP00000416396.1:p.Ala650Val
ENST00000453269.6:c.1949C>T (TAF6) ENSP00000389575.2:p.Ala650Val
ENST00000472509.5:c.2120C>T (TAF6) ENSP00000419760.1:p.Ala707Val
NM_001190415.1:c.2060C>T (TAF6) NP_001177344.1:p.Ala687Val
NM_005641.3:c.1949C>T (TAF6) NP_005632.1:p.Ala650Val
NM_139315.2:c.1949C>T (TAF6) NP_647476.1:p.Ala650Val
NR_033792.1:n.2052C>T (TAF6)
XM_006716100.1:c.1949C>T (TAF6) XP_006716163.1:p.Ala650Val
XM_006716101.1:c.1919C>T (TAF6) XP_006716164.1:p.Ala640Val
XM_006716102.1:c.1919C>T (TAF6) XP_006716165.1:p.Ala640Val
XM_011516542.1:c.1919C>T (TAF6) XP_011514844.1:p.Ala640Val
XM_011516543.1:c.1919C>T (TAF6) XP_011514845.1:p.Ala640Val
NM_001364998.1:c.1949C>T (TAF6) NP_001351927.1:p.Ala650Val
NM_001364999.1:c.1949C>T (TAF6) NP_001351928.1:p.Ala650Val
NM_001365000.1:c.1919C>T (TAF6) NP_001351929.1:p.Ala640Val
NM_001365001.1:c.1919C>T (TAF6) NP_001351930.1:p.Ala640Val
NM_001365002.1:c.1919C>T (TAF6) NP_001351931.1:p.Ala640Val
NM_001365003.1:c.1919C>T (TAF6) NP_001351932.1:p.Ala640Val
NM_001365004.1:c.2087C>T (TAF6) NP_001351933.1:p.Ala696Val
XM_011516543.3:c.1919C>T (TAF6) XP_011514845.1:p.Ala640Val
XM_024446896.1:c.1949C>T (TAF6) XP_024302664.1:p.Ala650Val
XM_024446899.1:c.2096C>T (TAF6) XP_024302667.1:p.Ala699Val
XM_024446900.1:c.1949C>T (TAF6) XP_024302668.1:p.Ala650Val
NM_139315.3:c.1949C>T (TAF6) MANE Select NP_647476.1:p.Ala650Val
NM_001190415.2:c.2060C>T (TAF6) NP_001177344.1:p.Ala687Val
NM_004722.4:c.*449G>A (AP4M1) MANE Select NP_004713.2:n.*449G>A
NM_005641.4:c.1949C>T (TAF6) NP_005632.1:p.Ala650Val
NR_033792.2:n.2038C>T (TAF6)
NM_001363671.2:c.*449G>A (AP4M1) NP_001350600.1:n.*449G>A