Canonical Allele Identifier: CA497693884

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221011-C-T
• MyVariant Identifiers: chr17:g.7124330C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221011C>T , CM000679.2:g.7221011C>T	GRCh38
NC_000017.10:g.7124330C>T , CM000679.1:g.7124330C>T	GRCh37
NC_000017.9:g.7065054C>T	NCBI36
NG_007975.1:g.6178C>T
NG_008391.2:g.4040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.430C>T MANE Select	ENSP00000349297.5:p.Leu144=
ENST00000322910.9:c.*385C>T	ENSP00000325395.5:n.*385C>T
ENST00000350303.9:c.364C>T	ENSP00000344152.5:p.Leu122=
ENST00000356839.9:c.430C>T	ENSP00000349297.5:p.Leu144=
ENST00000543245.6:c.499C>T	ENSP00000438689.2:p.Leu167=
ENST00000577191.5:n.507C>T
ENST00000577433.5:n.638C>T
ENST00000577857.5:n.293+181C>T
ENST00000579286.5:n.611C>T
ENST00000579886.2:c.268C>T	ENSP00000463246.1:p.Leu90=
ENST00000580365.1:n.161C>T
ENST00000581378.5:c.129C>T
ENST00000581562.5:n.477C>T
ENST00000582056.5:n.613C>T
ENST00000582166.1:n.411C>T
ENST00000583312.5:c.430C>T	ENSP00000467920.1:p.Leu144=
ENST00000584103.5:c.463C>T	ENSP00000465353.1:p.Leu155=
NM_000018.3:c.430C>T	NP_000009.1:p.Leu144=
NM_001033859.2:c.364C>T	NP_001029031.1:p.Leu122=
NM_001270447.1:c.499C>T	NP_001257376.1:p.Leu167=
NM_001270448.1:c.202C>T	NP_001257377.1:p.Leu68=
XM_006721516.2:c.430C>T	XP_006721579.2:p.Leu144=
XM_011523829.1:c.430C>T	XP_011522131.1:p.Leu144=
XM_011523830.1:c.430C>T	XP_011522132.1:p.Leu144=
XR_934021.1:n.537C>T
XR_934022.1:n.537C>T
XR_934023.1:n.537C>T
XM_006721516.3:c.430C>T	XP_006721579.2:p.Leu144=
XM_011523829.2:c.430C>T	XP_011522131.1:p.Leu144=
XM_011523830.2:c.430C>T	XP_011522132.1:p.Leu144=
XM_024450741.1:c.430C>T	XP_024306509.1:p.Leu144=
XR_934021.2:n.489C>T
XR_934022.2:n.489C>T
XR_934023.2:n.489C>T
NM_000018.4:c.430C>T MANE Select	NP_000009.1:p.Leu144=
NM_001033859.3:c.364C>T	NP_001029031.1:p.Leu122=
NM_001270447.2:c.499C>T	NP_001257376.1:p.Leu167=
NM_001270448.2:c.202C>T	NP_001257377.1:p.Leu68=