Canonical Allele Identifier: CA368476095
Community Standard Title: NM_004722.4(AP4M1):c.1138-1G>A
Gene: AP4M1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100106657G>A , CM000669.2:g.100106657G>A GRCh38
NC_000007.13:g.99704280G>A , CM000669.1:g.99704280G>A GRCh37
NC_000007.12:g.99542216G>A NCBI36
NG_016312.1:g.10151G>A
NG_029454.1:g.18202C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004722.4:c.1138-1G>A MANE Select NP_004713.2:n.1138-1G>A
ENST00000359593.9:c.1138-1G>A MANE Select ENSP00000352603.4:n.1138-1G>A
NM_001363671.1:c.1159-1G>A NP_001350600.1:n.1159-1G>A
NM_001363671.2:c.1159-1G>A NP_001350600.1:n.1159-1G>A
NM_004722.3:c.1138-1G>A NP_004713.2:n.1138-1G>A
ENST00000359593.8:c.1138-1G>A ENSP00000352603.4:n.1138-1G>A
ENST00000416938.5:c.1027-1G>A
ENST00000421755.5:c.1138-1G>A ENSP00000412185.1:n.1138-1G>A
ENST00000422582.5:c.754-1G>A ENSP00000406676.1:n.754-1G>A
ENST00000429084.5:c.1159-1G>A ENSP00000403663.1:n.1159-1G>A
ENST00000445208.5:c.*747-1G>A ENSP00000400598.1:n.*747-1G>A
ENST00000445295.1:c.315-124G>A
ENST00000445295.2:c.1138-124G>A ENSP00000393723.2:n.1138-124G>A
ENST00000450807.5:c.393+143G>A ENSP00000391585.1:n.393+143G>A
ENST00000489387.1:n.428-1G>A
ENST00000495154.2:n.1397-1G>A
ENST00000713591.1:c.1138-1G>A ENSP00000518888.1:n.1138-1G>A
XM_005250689.3:c.1159-1G>A XP_005250746.1:n.1159-1G>A
XM_005250689.4:c.1159-1G>A XP_005250746.1:n.1159-1G>A
XM_005250690.3:c.934-1G>A XP_005250747.1:n.934-1G>A
XM_005250690.4:c.934-1G>A XP_005250747.1:n.934-1G>A
XM_006716175.2:c.1159-124G>A XP_006716238.1:n.1159-124G>A
XM_006716175.4:c.1159-124G>A XP_006716238.1:n.1159-124G>A
XM_011516685.1:c.1159-1G>A XP_011514987.1:n.1159-1G>A
XM_011516686.1:c.754-1G>A XP_011514988.1:n.754-1G>A
XM_011516687.1:c.463-1G>A XP_011514989.1:n.463-1G>A
XM_017012790.2:c.754-124G>A XP_016868279.1:n.754-124G>A
XM_017012791.2:c.463-1G>A XP_016868280.1:n.463-1G>A
XM_024446995.1:c.1138-124G>A XP_024302763.1:n.1138-124G>A
XM_024446996.1:c.463-1G>A XP_024302764.1:n.463-1G>A