Canonical Allele Identifier: CA401065243

Gene: ACOX1

Linked Data

• MyVariant Identifiers: chr17:g.73949560C>A (hg19) ; chr17:g.75953479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953479C>A , CM000679.2:g.75953479C>A	GRCh38
NC_000017.10:g.73949560C>A , CM000679.1:g.73949560C>A	GRCh37
NC_000017.9:g.71461155C>A	NCBI36
NG_008190.1:g.30885G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301608.9:c.916G>T	ENSP00000301608.4:p.Val306Leu
ENST00000293217.10:c.916G>T MANE Select	ENSP00000293217.4:p.Val306Leu
ENST00000293217.9:c.916G>T	ENSP00000293217.4:p.Val306Leu
ENST00000301608.8:c.916G>T	ENSP00000301608.4:p.Val306Leu
ENST00000572047.5:c.1090G>T	ENSP00000459936.1:n.1090G>T
ENST00000573078.5:c.*405G>T	ENSP00000458325.1:n.*405G>T
ENST00000589744.1:n.166G>T
NM_001185039.1:c.802G>T	NP_001171968.1:p.Val268Leu
NM_004035.6:c.916G>T	NP_004026.2:p.Val306Leu
NM_007292.5:c.916G>T	NP_009223.2:p.Val306Leu
XM_011524868.1:c.712G>T	XP_011523170.1:p.Val238Leu
XM_011524869.1:c.508G>T	XP_011523171.1:p.Val170Leu
XM_011524868.3:c.712G>T	XP_011523170.1:p.Val238Leu
XM_011524869.3:c.508G>T	XP_011523171.1:p.Val170Leu
NM_004035.7:c.916G>T MANE Select	NP_004026.2:p.Val306Leu
NM_001185039.2:c.802G>T	NP_001171968.1:p.Val268Leu
NM_007292.6:c.916G>T	NP_009223.2:p.Val306Leu