Canonical Allele Identifier: CA368472432

Gene: AP4M1

Linked Data

• ClinVar Variation Id: 471069
• ClinVar RCV Id: RCV000549259 ; RCV001849402
• dbSNP Id: rs1554380391
• gnomAD v4: 7-100105461-A-C
• MyVariant Identifiers: chr7:g.99703084A>C (hg19) ; chr7:g.100105461A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100105461A>C , CM000669.2:g.100105461A>C	GRCh38
NC_000007.13:g.99703084A>C , CM000669.1:g.99703084A>C	GRCh37
NC_000007.12:g.99541020A>C	NCBI36
NG_016312.1:g.8955A>C
NG_029454.1:g.19398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445295.2:c.851A>C	ENSP00000393723.2:p.Tyr284Ser
ENST00000495154.2:n.1110A>C
ENST00000713591.1:c.851A>C	ENSP00000518888.1:p.Tyr284Ser
ENST00000359593.9:c.851A>C MANE Select	ENSP00000352603.4:p.Tyr284Ser
ENST00000359593.8:c.851A>C	ENSP00000352603.4:p.Tyr284Ser
ENST00000416938.5:c.740A>C
ENST00000421755.5:c.851A>C	ENSP00000412185.1:p.Tyr284Ser
ENST00000422582.5:c.467A>C	ENSP00000406676.1:p.Tyr156Ser
ENST00000429084.5:c.872A>C	ENSP00000403663.1:p.Tyr291Ser
ENST00000438383.5:c.647A>C	ENSP00000401613.1:p.Tyr216Ser
ENST00000439416.5:c.719A>C	ENSP00000414286.1:p.Tyr240Ser
ENST00000445208.5:c.*460A>C	ENSP00000400598.1:n.*460A>C
ENST00000445295.1:c.28A>C
ENST00000446007.5:c.*73A>C	ENSP00000396928.1:n.*73A>C
ENST00000450807.5:c.107A>C	ENSP00000391585.1:p.Tyr36Ser
ENST00000463195.5:n.858A>C
ENST00000479916.1:n.433A>C
NM_004722.3:c.851A>C	NP_004713.2:p.Tyr284Ser
XM_005250689.3:c.872A>C	XP_005250746.1:p.Tyr291Ser
XM_005250690.3:c.647A>C	XP_005250747.1:p.Tyr216Ser
XM_006716175.2:c.872A>C	XP_006716238.1:p.Tyr291Ser
XM_011516685.1:c.872A>C	XP_011514987.1:p.Tyr291Ser
XM_011516686.1:c.467A>C	XP_011514988.1:p.Tyr156Ser
XM_011516687.1:c.176A>C	XP_011514989.1:p.Tyr59Ser
NM_001363671.1:c.872A>C	NP_001350600.1:p.Tyr291Ser
XM_005250689.4:c.872A>C	XP_005250746.1:p.Tyr291Ser
XM_005250690.4:c.647A>C	XP_005250747.1:p.Tyr216Ser
XM_006716175.4:c.872A>C	XP_006716238.1:p.Tyr291Ser
XM_017012790.2:c.467A>C	XP_016868279.1:p.Tyr156Ser
XM_017012791.2:c.176A>C	XP_016868280.1:p.Tyr59Ser
XM_024446995.1:c.851A>C	XP_024302763.1:p.Tyr284Ser
XM_024446996.1:c.176A>C	XP_024302764.1:p.Tyr59Ser
NM_004722.4:c.851A>C MANE Select	NP_004713.2:p.Tyr284Ser
NM_001363671.2:c.872A>C	NP_001350600.1:p.Tyr291Ser