Canonical Allele Identifier: CA1729350938
Community Standard Title: NM_004722.4(AP4M1):c.974+101A>G
Gene: AP4M1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100106104A>G , CM000669.2:g.100106104A>G GRCh38
NC_000007.13:g.99703727A>G , CM000669.1:g.99703727A>G GRCh37
NC_000007.12:g.99541663A>G NCBI36
NG_016312.1:g.9598A>G
NG_029454.1:g.18755T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004722.4:c.974+101A>G MANE Select NP_004713.2:n.974+101A>G
ENST00000359593.9:c.974+101A>G MANE Select ENSP00000352603.4:n.974+101A>G
NM_001363671.1:c.995+101A>G NP_001350600.1:n.995+101A>G
NM_001363671.2:c.995+101A>G NP_001350600.1:n.995+101A>G
NM_004722.3:c.974+101A>G NP_004713.2:n.974+101A>G
ENST00000359593.8:c.974+101A>G ENSP00000352603.4:n.974+101A>G
ENST00000416938.5:c.863+101A>G
ENST00000421755.5:c.974+101A>G ENSP00000412185.1:n.974+101A>G
ENST00000422582.5:c.590+101A>G ENSP00000406676.1:n.590+101A>G
ENST00000429084.5:c.995+101A>G ENSP00000403663.1:n.995+101A>G
ENST00000438383.5:c.770+101A>G ENSP00000401613.1:n.770+101A>G
ENST00000445208.5:c.*583+101A>G ENSP00000400598.1:n.*583+101A>G
ENST00000445295.1:c.151+101A>G
ENST00000445295.2:c.974+101A>G ENSP00000393723.2:n.974+101A>G
ENST00000446007.5:c.*196+101A>G ENSP00000396928.1:n.*196+101A>G
ENST00000450807.5:c.230+101A>G ENSP00000391585.1:n.230+101A>G
ENST00000489387.1:n.128A>G
ENST00000495154.2:n.1233+101A>G
ENST00000713591.1:c.974+101A>G ENSP00000518888.1:n.974+101A>G
XM_005250689.3:c.995+101A>G XP_005250746.1:n.995+101A>G
XM_005250689.4:c.995+101A>G XP_005250746.1:n.995+101A>G
XM_005250690.3:c.770+101A>G XP_005250747.1:n.770+101A>G
XM_005250690.4:c.770+101A>G XP_005250747.1:n.770+101A>G
XM_006716175.2:c.995+101A>G XP_006716238.1:n.995+101A>G
XM_006716175.4:c.995+101A>G XP_006716238.1:n.995+101A>G
XM_011516685.1:c.995+101A>G XP_011514987.1:n.995+101A>G
XM_011516686.1:c.590+101A>G XP_011514988.1:n.590+101A>G
XM_011516687.1:c.299+101A>G XP_011514989.1:n.299+101A>G
XM_017012790.2:c.590+101A>G XP_016868279.1:n.590+101A>G
XM_017012791.2:c.299+101A>G XP_016868280.1:n.299+101A>G
XM_024446995.1:c.974+101A>G XP_024302763.1:n.974+101A>G
XM_024446996.1:c.299+101A>G XP_024302764.1:n.299+101A>G