Canonical Allele Identifier: CA54103482

Gene: ACOXL

Linked Data

• dbSNP Id: rs955352217
• gnomAD v3: 2-111039856-G-A
• gnomAD v4: 2-111039856-G-A
• MyVariant Identifiers: chr2:g.111797433G>A (hg19) ; chr2:g.111039856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111039856G>A , CM000664.2:g.111039856G>A	GRCh38
NC_000002.11:g.111797433G>A , CM000664.1:g.111797433G>A	GRCh37
NC_000002.10:g.111513904G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000676595.2:c.1459+8142G>A	ENSP00000503683.1:n.1459+8142G>A
ENST00000439055.6:c.1369+8142G>A MANE Select	ENSP00000407761.1:n.1369+8142G>A
ENST00000676595.1:c.1459+8142G>A	ENSP00000503683.1:n.1459+8142G>A
ENST00000389811.8:c.1459+8142G>A	ENSP00000374461.4:n.1459+8142G>A
ENST00000417074.5:c.883+8142G>A	ENSP00000387832.1:n.883+8142G>A
ENST00000439055.5:c.1369+8142G>A	ENSP00000407761.1:n.1369+8142G>A
ENST00000441974.1:c.220+8142G>A	ENSP00000393823.1:n.220+8142G>A
ENST00000443586.5:c.313-9362G>A	ENSP00000409500.1:n.313-9362G>A
NM_001142807.1:c.1369+8142G>A	NP_001136279.1:n.1369+8142G>A
XM_011511404.1:c.1459+8142G>A	XP_011509706.1:n.1459+8142G>A
XM_011511405.1:c.1459+8142G>A	XP_011509707.1:n.1459+8142G>A
XM_011511406.1:c.1459+8142G>A	XP_011509708.1:n.1459+8142G>A
XM_011511407.1:c.1447+8142G>A	XP_011509709.1:n.1447+8142G>A
XM_011511408.1:c.1375+8142G>A	XP_011509710.1:n.1375+8142G>A
XM_011511409.1:c.1459+8142G>A	XP_011509711.1:n.1459+8142G>A
XM_011511410.1:c.1459+8142G>A	XP_011509712.1:n.1459+8142G>A
XM_011511411.1:c.1342+8142G>A	XP_011509713.1:n.1342+8142G>A
XM_011511412.1:c.1459+8142G>A	XP_011509714.1:n.1459+8142G>A
XM_011511413.1:c.1459+8142G>A	XP_011509715.1:n.1459+8142G>A
XM_011511414.1:c.1371+43852G>A	XP_011509716.1:n.1371+43852G>A
XM_011511415.1:c.1459+8142G>A	XP_011509717.1:n.1459+8142G>A
XM_011511416.1:c.1459+8142G>A	XP_011509718.1:n.1459+8142G>A
XM_011511417.1:c.1459+8142G>A	XP_011509719.1:n.1459+8142G>A
XM_011511419.1:c.1369+8142G>A	XP_011509721.1:n.1369+8142G>A
XM_011511420.1:c.1459+8142G>A	XP_011509722.1:n.1459+8142G>A
XM_011511421.1:c.1459+8142G>A	XP_011509723.1:n.1459+8142G>A
XM_011511422.1:c.1459+8142G>A	XP_011509724.1:n.1459+8142G>A
XM_011511423.1:c.1459+8142G>A	XP_011509725.1:n.1459+8142G>A
XM_011511424.1:c.1459+8142G>A	XP_011509726.1:n.1459+8142G>A
XM_011511432.1:c.1459+8142G>A	XP_011509734.1:n.1459+8142G>A
XM_011511434.1:c.598+8142G>A	XP_011509736.1:n.598+8142G>A
XR_922958.1:n.1717+8142G>A
XR_922959.1:n.1630-9362G>A
XR_923192.1:n.153-2934C>T
NM_001142807.2:c.1369+8142G>A	NP_001136279.1:n.1369+8142G>A
XM_011511404.3:c.1459+8142G>A	XP_011509706.1:n.1459+8142G>A
XM_011511405.3:c.1459+8142G>A	XP_011509707.1:n.1459+8142G>A
XM_011511406.3:c.1459+8142G>A	XP_011509708.1:n.1459+8142G>A
XM_011511407.3:c.1447+8142G>A	XP_011509709.1:n.1447+8142G>A
XM_011511411.3:c.1342+8142G>A	XP_011509713.1:n.1342+8142G>A
XM_011511414.3:c.1371+43852G>A	XP_011509716.1:n.1371+43852G>A
XM_011511415.2:c.1459+8142G>A	XP_011509717.1:n.1459+8142G>A
XM_011511416.2:c.1459+8142G>A	XP_011509718.1:n.1459+8142G>A
XM_011511419.2:c.1369+8142G>A	XP_011509721.1:n.1369+8142G>A
XM_011511420.2:c.1459+8142G>A	XP_011509722.1:n.1459+8142G>A
XM_011511421.2:c.1459+8142G>A	XP_011509723.1:n.1459+8142G>A
XM_011511427.2:c.*1844G>A	XP_011509729.1:n.*1844G>A
XM_011511432.3:c.1459+8142G>A	XP_011509734.1:n.1459+8142G>A
XM_011511434.3:c.598+8142G>A	XP_011509736.1:n.598+8142G>A
XM_017004433.2:c.730+8142G>A	XP_016859922.1:n.730+8142G>A
XM_017004434.2:c.598+8142G>A	XP_016859923.1:n.598+8142G>A
XR_001738822.1:n.1630-9362G>A
XR_001738823.2:n.1517+8142G>A
NM_001142807.4:c.1369+8142G>A MANE Select	NP_001136279.1:n.1369+8142G>A
NM_001371254.1:c.1459+8142G>A	NP_001358183.1:n.1459+8142G>A