Canonical Allele Identifier: CA397722412

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123963T>A (hg19) ; chr17:g.7220644T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220644T>A , CM000679.2:g.7220644T>A	GRCh38
NC_000017.10:g.7123963T>A , CM000679.1:g.7123963T>A	GRCh37
NC_000017.9:g.7064687T>A	NCBI36
NG_007975.1:g.5811T>A
NG_008391.2:g.4407A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.245T>A MANE Select	ENSP00000349297.5:p.Leu82His
ENST00000322910.9:c.*200T>A	ENSP00000325395.5:n.*200T>A
ENST00000350303.9:c.179T>A	ENSP00000344152.5:p.Leu60His
ENST00000356839.9:c.245T>A	ENSP00000349297.5:p.Leu82His
ENST00000543245.6:c.314T>A	ENSP00000438689.2:p.Leu105His
ENST00000577191.5:n.322T>A
ENST00000577433.5:n.453T>A
ENST00000577857.5:n.229-122T>A
ENST00000578269.5:n.692T>A
ENST00000578421.1:n.453T>A
ENST00000579286.5:n.426T>A
ENST00000579886.2:c.201+118T>A	ENSP00000463246.1:n.201+118T>A
ENST00000580263.5:n.409T>A
ENST00000581562.5:n.292T>A
ENST00000582056.5:n.335T>A
ENST00000582166.1:n.133T>A
ENST00000582356.5:n.444T>A
ENST00000583312.5:c.245T>A	ENSP00000467920.1:p.Leu82His
ENST00000584103.5:c.245T>A	ENSP00000465353.1:p.Leu82His
NM_000018.3:c.245T>A	NP_000009.1:p.Leu82His
NM_001033859.2:c.179T>A	NP_001029031.1:p.Leu60His
NM_001270447.1:c.314T>A	NP_001257376.1:p.Leu105His
NM_001270448.1:c.17T>A	NP_001257377.1:p.Leu6His
XM_006721516.2:c.245T>A	XP_006721579.2:p.Leu82His
XM_011523829.1:c.245T>A	XP_011522131.1:p.Leu82His
XM_011523830.1:c.245T>A	XP_011522132.1:p.Leu82His
XR_934021.1:n.352T>A
XR_934022.1:n.352T>A
XR_934023.1:n.352T>A
XM_006721516.3:c.245T>A	XP_006721579.2:p.Leu82His
XM_011523829.2:c.245T>A	XP_011522131.1:p.Leu82His
XM_011523830.2:c.245T>A	XP_011522132.1:p.Leu82His
XM_024450741.1:c.245T>A	XP_024306509.1:p.Leu82His
XR_934021.2:n.304T>A
XR_934022.2:n.304T>A
XR_934023.2:n.304T>A
NM_000018.4:c.245T>A MANE Select	NP_000009.1:p.Leu82His
NM_001033859.3:c.179T>A	NP_001029031.1:p.Leu60His
NM_001270447.2:c.314T>A	NP_001257376.1:p.Leu105His
NM_001270448.2:c.17T>A	NP_001257377.1:p.Leu6His