Canonical Allele Identifier: CA401065188

Gene: ACOX1

Linked Data

• MyVariant Identifiers: chr17:g.73949553T>A (hg19) ; chr17:g.75953472T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953472T>A , CM000679.2:g.75953472T>A	GRCh38
NC_000017.10:g.73949553T>A , CM000679.1:g.73949553T>A	GRCh37
NC_000017.9:g.71461148T>A	NCBI36
NG_008190.1:g.30892A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301608.9:c.923A>T	ENSP00000301608.4:p.His308Leu
ENST00000293217.10:c.923A>T MANE Select	ENSP00000293217.4:p.His308Leu
ENST00000293217.9:c.923A>T	ENSP00000293217.4:p.His308Leu
ENST00000301608.8:c.923A>T	ENSP00000301608.4:p.His308Leu
ENST00000572047.5:c.1097A>T	ENSP00000459936.1:n.1097A>T
ENST00000573078.5:c.*412A>T	ENSP00000458325.1:n.*412A>T
ENST00000589744.1:n.173A>T
NM_001185039.1:c.809A>T	NP_001171968.1:p.His270Leu
NM_004035.6:c.923A>T	NP_004026.2:p.His308Leu
NM_007292.5:c.923A>T	NP_009223.2:p.His308Leu
XM_011524868.1:c.719A>T	XP_011523170.1:p.His240Leu
XM_011524869.1:c.515A>T	XP_011523171.1:p.His172Leu
XM_011524868.3:c.719A>T	XP_011523170.1:p.His240Leu
XM_011524869.3:c.515A>T	XP_011523171.1:p.His172Leu
NM_004035.7:c.923A>T MANE Select	NP_004026.2:p.His308Leu
NM_001185039.2:c.809A>T	NP_001171968.1:p.His270Leu
NM_007292.6:c.923A>T	NP_009223.2:p.His308Leu