Canonical Allele Identifier: CA397722810

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220973-C-T
• MyVariant Identifiers: chr17:g.7124292C>T (hg19) ; chr17:g.7220973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220973C>T , CM000679.2:g.7220973C>T	GRCh38
NC_000017.10:g.7124292C>T , CM000679.1:g.7124292C>T	GRCh37
NC_000017.9:g.7065016C>T	NCBI36
NG_007975.1:g.6140C>T
NG_008391.2:g.4078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.392C>T MANE Select	ENSP00000349297.5:p.Thr131Ile
ENST00000322910.9:c.*347C>T	ENSP00000325395.5:n.*347C>T
ENST00000350303.9:c.326C>T	ENSP00000344152.5:p.Thr109Ile
ENST00000356839.9:c.392C>T	ENSP00000349297.5:p.Thr131Ile
ENST00000543245.6:c.461C>T	ENSP00000438689.2:p.Thr154Ile
ENST00000577191.5:n.469C>T
ENST00000577433.5:n.600C>T
ENST00000577857.5:n.293+143C>T
ENST00000579286.5:n.573C>T
ENST00000579886.2:c.230C>T	ENSP00000463246.1:p.Thr77Ile
ENST00000580365.1:n.123C>T
ENST00000581378.5:c.91C>T
ENST00000581562.5:n.439C>T
ENST00000582056.5:n.575C>T
ENST00000582166.1:n.373C>T
ENST00000583312.5:c.392C>T	ENSP00000467920.1:p.Thr131Ile
ENST00000584103.5:c.425C>T	ENSP00000465353.1:p.Thr142Ile
NM_000018.3:c.392C>T	NP_000009.1:p.Thr131Ile
NM_001033859.2:c.326C>T	NP_001029031.1:p.Thr109Ile
NM_001270447.1:c.461C>T	NP_001257376.1:p.Thr154Ile
NM_001270448.1:c.164C>T	NP_001257377.1:p.Thr55Ile
XM_006721516.2:c.392C>T	XP_006721579.2:p.Thr131Ile
XM_011523829.1:c.392C>T	XP_011522131.1:p.Thr131Ile
XM_011523830.1:c.392C>T	XP_011522132.1:p.Thr131Ile
XR_934021.1:n.499C>T
XR_934022.1:n.499C>T
XR_934023.1:n.499C>T
XM_006721516.3:c.392C>T	XP_006721579.2:p.Thr131Ile
XM_011523829.2:c.392C>T	XP_011522131.1:p.Thr131Ile
XM_011523830.2:c.392C>T	XP_011522132.1:p.Thr131Ile
XM_024450741.1:c.392C>T	XP_024306509.1:p.Thr131Ile
XR_934021.2:n.451C>T
XR_934022.2:n.451C>T
XR_934023.2:n.451C>T
NM_000018.4:c.392C>T MANE Select	NP_000009.1:p.Thr131Ile
NM_001033859.3:c.326C>T	NP_001029031.1:p.Thr109Ile
NM_001270447.2:c.461C>T	NP_001257376.1:p.Thr154Ile
NM_001270448.2:c.164C>T	NP_001257377.1:p.Thr55Ile