Canonical Allele Identifier: CA397725042

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224037-C-T
• MyVariant Identifiers: chr17:g.7127356C>T (hg19) ; chr17:g.7224037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224037C>T , CM000679.2:g.7224037C>T	GRCh38
NC_000017.10:g.7127356C>T , CM000679.1:g.7127356C>T	GRCh37
NC_000017.9:g.7068080C>T	NCBI36
NG_007975.1:g.9204C>T
NG_008391.2:g.1014G>A
NG_033038.1:g.15508G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1402C>T MANE Select	ENSP00000349297.5:p.Leu468Phe
ENST00000322910.9:c.*1357C>T	ENSP00000325395.5:n.*1357C>T
ENST00000350303.9:c.1336C>T	ENSP00000344152.5:p.Leu446Phe
ENST00000356839.9:c.1402C>T	ENSP00000349297.5:p.Leu468Phe
ENST00000542255.6:c.260C>T
ENST00000543245.6:c.1471C>T	ENSP00000438689.2:p.Leu491Phe
ENST00000578711.1:n.533C>T
ENST00000579425.5:n.518C>T
ENST00000579546.1:c.239C>T
ENST00000579894.5:n.113C>T
ENST00000583074.5:n.121C>T
ENST00000583850.5:n.177C>T
ENST00000583858.5:c.431C>T
ENST00000585203.6:n.593C>T
NM_000018.3:c.1402C>T	NP_000009.1:p.Leu468Phe
NM_001033859.2:c.1336C>T	NP_001029031.1:p.Leu446Phe
NM_001270447.1:c.1471C>T	NP_001257376.1:p.Leu491Phe
NM_001270448.1:c.1174C>T	NP_001257377.1:p.Leu392Phe
XM_006721516.2:c.1402C>T	XP_006721579.2:p.Leu468Phe
XM_011523829.1:c.1402C>T	XP_011522131.1:p.Leu468Phe
XM_011523830.1:c.1402C>T	XP_011522132.1:p.Leu468Phe
XR_934021.1:n.1509C>T
XR_934022.1:n.1509C>T
XR_934023.1:n.1509C>T
XM_006721516.3:c.1402C>T	XP_006721579.2:p.Leu468Phe
XM_011523829.2:c.1402C>T	XP_011522131.1:p.Leu468Phe
XM_011523830.2:c.1402C>T	XP_011522132.1:p.Leu468Phe
XM_024450741.1:c.1402C>T	XP_024306509.1:p.Leu468Phe
XR_934021.2:n.1461C>T
XR_934022.2:n.1461C>T
XR_934023.2:n.1461C>T
NM_000018.4:c.1402C>T MANE Select	NP_000009.1:p.Leu468Phe
NM_001033859.3:c.1336C>T	NP_001029031.1:p.Leu446Phe
NM_001270447.2:c.1471C>T	NP_001257376.1:p.Leu491Phe
NM_001270448.2:c.1174C>T	NP_001257377.1:p.Leu392Phe