Canonical Allele Identifier: CA8611914

Gene: ACBD4

Linked Data

• dbSNP Id: rs752133871
• ExAC: 17:43220917 G / A
• gnomAD v2: 17-43220917-G-A
• MyVariant Identifiers: chr17:g.43220917G>A (hg19) ; chr17:g.45143550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45143550G>A , CM000679.2:g.45143550G>A	GRCh38
NC_000017.10:g.43220917G>A , CM000679.1:g.43220917G>A	GRCh37
NC_000017.9:g.40576700G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321854.13:c.897G>A MANE Select	ENSP00000314440.8:p.Met299Ile
ENST00000321854.12:c.897G>A	ENSP00000314440.8:p.Met299Ile
ENST00000398322.7:c.897G>A	ENSP00000381367.2:p.Met299Ile
ENST00000431281.5:c.935G>A	ENSP00000405969.1:p.Cys312Tyr
ENST00000585553.5:n.1615G>A
ENST00000586346.5:c.935G>A	ENSP00000465484.1:p.Cys312Tyr
ENST00000591859.5:c.935G>A	ENSP00000465610.1:p.Cys312Tyr
ENST00000592162.5:c.757G>A	ENSP00000466305.1:p.Val253Ile
NM_001135704.1:c.935G>A	NP_001129176.1:p.Cys312Tyr
NM_001135705.1:c.897G>A	NP_001129177.1:p.Met299Ile
NM_001135706.1:c.935G>A	NP_001129178.1:p.Cys312Tyr
NM_024722.2:c.897G>A	NP_078998.1:p.Met299Ile
XM_005257673.1:c.938G>A	XP_005257730.1:p.Cys313Tyr
XM_005257674.1:c.938G>A	XP_005257731.1:p.Cys313Tyr
XM_005257677.1:c.935G>A	XP_005257734.1:p.Cys312Tyr
XM_006722085.1:c.900G>A	XP_006722148.1:p.Met300Ile
XM_006722088.1:c.798G>A	XP_006722151.1:p.Met266Ile
XM_006722089.1:c.760G>A	XP_006722152.1:p.Val254Ile
XM_006722090.1:c.757G>A	XP_006722153.1:p.Val253Ile
XM_011525255.1:c.938G>A	XP_011523557.1:p.Cys313Tyr
XM_011525256.1:c.938G>A	XP_011523558.1:p.Cys313Tyr
XM_011525257.1:c.795G>A	XP_011523559.1:p.Met265Ile
NM_001135705.2:c.897G>A	NP_001129177.1:p.Met299Ile
NM_001135706.2:c.935G>A	NP_001129178.1:p.Cys312Tyr
NM_001135707.2:c.*940G>A	NP_001129179.1:n.*940G>A
NM_001321352.1:c.935G>A	NP_001308281.1:p.Cys312Tyr
NM_001321353.1:c.935G>A	NP_001308282.1:p.Cys312Tyr
NM_024722.3:c.897G>A	NP_078998.1:p.Met299Ile
XM_006722085.2:c.900G>A	XP_006722148.1:p.Met300Ile
XM_017025084.1:c.956G>A	XP_016880573.1:p.Cys319Tyr
XM_017025085.1:c.956G>A	XP_016880574.1:p.Cys319Tyr
XM_017025086.1:c.956G>A	XP_016880575.1:p.Cys319Tyr
XM_017025087.1:c.938G>A	XP_016880576.1:p.Cys313Tyr
XM_017025088.1:c.935G>A	XP_016880577.1:p.Cys312Tyr
XM_017025089.2:c.*770G>A	XP_016880578.1:n.*770G>A
XM_017025090.1:c.918G>A	XP_016880579.1:p.Met306Ile
XM_017025091.1:c.897G>A	XP_016880580.1:p.Met299Ile
XM_017025092.2:c.897G>A	XP_016880581.1:p.Met299Ile
XM_017025094.1:c.*940G>A	XP_016880583.1:n.*940G>A
XM_017025095.1:c.816G>A	XP_016880584.1:p.Met272Ile
XM_017025096.1:c.778G>A	XP_016880585.1:p.Val260Ile
XM_017025097.1:c.795G>A	XP_016880586.1:p.Met265Ile
XM_017025098.1:c.795G>A	XP_016880587.1:p.Met265Ile
XM_017025099.1:c.757G>A	XP_016880588.1:p.Val253Ile
XM_024450949.1:c.*770G>A	XP_024306717.1:n.*770G>A
NM_001135705.3:c.897G>A MANE Select	NP_001129177.1:p.Met299Ile
NM_001135706.3:c.935G>A	NP_001129178.1:p.Cys312Tyr
NM_001135707.3:c.*940G>A	NP_001129179.1:n.*940G>A
NM_001321352.2:c.935G>A	NP_001308281.1:p.Cys312Tyr
NM_001321353.2:c.935G>A	NP_001308282.1:p.Cys312Tyr
NM_024722.4:c.897G>A	NP_078998.1:p.Met299Ile
NM_001378111.1:c.*940G>A	NP_001365040.1:n.*940G>A
NM_001378112.1:c.*940G>A	NP_001365041.1:n.*940G>A