Canonical Allele Identifier: CA16605611

Gene: AP4M1

Linked Data

• ClinVar Variation Id: 383930
• ClinVar RCV Id: RCV000422720 ; RCV001849370
• dbSNP Id: rs1057521784
• gnomAD v4: 7-100105985-G-A
• MyVariant Identifiers: chr7:g.99703608G>A (hg19) ; chr7:g.100105985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100105985G>A , CM000669.2:g.100105985G>A	GRCh38
NC_000007.13:g.99703608G>A , CM000669.1:g.99703608G>A	GRCh37
NC_000007.12:g.99541544G>A	NCBI36
NG_016312.1:g.9479G>A
NG_029454.1:g.18874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445295.2:c.956G>A	ENSP00000393723.2:p.Cys319Tyr
ENST00000495154.2:n.1215G>A
ENST00000713591.1:c.956G>A	ENSP00000518888.1:p.Cys319Tyr
ENST00000359593.9:c.956G>A MANE Select	ENSP00000352603.4:p.Cys319Tyr
ENST00000359593.8:c.956G>A	ENSP00000352603.4:p.Cys319Tyr
ENST00000416938.5:c.845G>A
ENST00000421755.5:c.956G>A	ENSP00000412185.1:p.Cys319Tyr
ENST00000422582.5:c.572G>A	ENSP00000406676.1:p.Cys191Tyr
ENST00000429084.5:c.977G>A	ENSP00000403663.1:p.Cys326Tyr
ENST00000438383.5:c.752G>A	ENSP00000401613.1:p.Cys251Tyr
ENST00000445208.5:c.*565G>A	ENSP00000400598.1:n.*565G>A
ENST00000445295.1:c.133G>A
ENST00000446007.5:c.*178G>A	ENSP00000396928.1:n.*178G>A
ENST00000450807.5:c.212G>A	ENSP00000391585.1:p.Cys71Tyr
ENST00000463195.5:n.963G>A
ENST00000489387.1:n.9G>A
NM_004722.3:c.956G>A	NP_004713.2:p.Cys319Tyr
XM_005250689.3:c.977G>A	XP_005250746.1:p.Cys326Tyr
XM_005250690.3:c.752G>A	XP_005250747.1:p.Cys251Tyr
XM_006716175.2:c.977G>A	XP_006716238.1:p.Cys326Tyr
XM_011516685.1:c.977G>A	XP_011514987.1:p.Cys326Tyr
XM_011516686.1:c.572G>A	XP_011514988.1:p.Cys191Tyr
XM_011516687.1:c.281G>A	XP_011514989.1:p.Cys94Tyr
NM_001363671.1:c.977G>A	NP_001350600.1:p.Cys326Tyr
XM_005250689.4:c.977G>A	XP_005250746.1:p.Cys326Tyr
XM_005250690.4:c.752G>A	XP_005250747.1:p.Cys251Tyr
XM_006716175.4:c.977G>A	XP_006716238.1:p.Cys326Tyr
XM_017012790.2:c.572G>A	XP_016868279.1:p.Cys191Tyr
XM_017012791.2:c.281G>A	XP_016868280.1:p.Cys94Tyr
XM_024446995.1:c.956G>A	XP_024302763.1:p.Cys319Tyr
XM_024446996.1:c.281G>A	XP_024302764.1:p.Cys94Tyr
NM_004722.4:c.956G>A MANE Select	NP_004713.2:p.Cys319Tyr
NM_001363671.2:c.977G>A	NP_001350600.1:p.Cys326Tyr