Canonical Allele Identifier: CA163214917
Community Standard Title: NM_004722.4(AP4M1):c.463-2A>T
Gene: AP4M1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100103610A>T , CM000669.2:g.100103610A>T GRCh38
NC_000007.13:g.99701233A>T , CM000669.1:g.99701233A>T GRCh37
NC_000007.12:g.99539169A>T NCBI36
NG_016312.1:g.7104A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004722.4:c.463-2A>T MANE Select NP_004713.2:n.463-2A>T
ENST00000359593.9:c.463-2A>T MANE Select ENSP00000352603.4:n.463-2A>T
NM_001363671.1:c.484-2A>T NP_001350600.1:n.484-2A>T
NM_001363671.2:c.484-2A>T NP_001350600.1:n.484-2A>T
NM_004722.3:c.463-2A>T NP_004713.2:n.463-2A>T
ENST00000359593.8:c.463-2A>T ENSP00000352603.4:n.463-2A>T
ENST00000394061.7:c.*416-2A>T ENSP00000377625.3:n.*416-2A>T
ENST00000416938.5:c.419-2A>T
ENST00000421755.5:c.463-2A>T ENSP00000412185.1:n.463-2A>T
ENST00000422582.5:c.79-2A>T ENSP00000406676.1:n.79-2A>T
ENST00000429084.5:c.484-2A>T ENSP00000403663.1:n.484-2A>T
ENST00000438383.5:c.259-2A>T ENSP00000401613.1:n.259-2A>T
ENST00000439416.5:c.331-2A>T ENSP00000414286.1:n.331-2A>T
ENST00000445208.5:c.*72-2A>T ENSP00000400598.1:n.*72-2A>T
ENST00000445295.2:c.463-2A>T ENSP00000393723.2:n.463-2A>T
ENST00000446007.5:c.463-2A>T ENSP00000396928.1:n.463-2A>T
ENST00000463195.5:n.537-2A>T
ENST00000479916.1:n.43A>T
ENST00000495154.2:n.722-2A>T
ENST00000713591.1:c.463-2A>T ENSP00000518888.1:n.463-2A>T
XM_005250689.3:c.484-2A>T XP_005250746.1:n.484-2A>T
XM_005250689.4:c.484-2A>T XP_005250746.1:n.484-2A>T
XM_005250690.3:c.259-2A>T XP_005250747.1:n.259-2A>T
XM_005250690.4:c.259-2A>T XP_005250747.1:n.259-2A>T
XM_006716175.2:c.484-2A>T XP_006716238.1:n.484-2A>T
XM_006716175.4:c.484-2A>T XP_006716238.1:n.484-2A>T
XM_011516685.1:c.484-2A>T XP_011514987.1:n.484-2A>T
XM_011516686.1:c.79-2A>T XP_011514988.1:n.79-2A>T
XM_011516687.1:c.-146-2A>T XP_011514989.1:n.-146-2A>T
XM_017012790.2:c.79-2A>T XP_016868279.1:n.79-2A>T
XM_017012791.2:c.-146-2A>T XP_016868280.1:n.-146-2A>T
XM_024446995.1:c.463-2A>T XP_024302763.1:n.463-2A>T
XM_024446996.1:c.-146-2A>T XP_024302764.1:n.-146-2A>T