Canonical Allele Identifier: CA397723541

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125371T>G (hg19) ; chr17:g.7222052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222052T>G , CM000679.2:g.7222052T>G	GRCh38
NC_000017.10:g.7125371T>G , CM000679.1:g.7125371T>G	GRCh37
NC_000017.9:g.7066095T>G	NCBI36
NG_007975.1:g.7219T>G
NG_008391.2:g.2999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.723T>G MANE Select	ENSP00000349297.5:p.Tyr241Ter
ENST00000322910.9:c.*678T>G	ENSP00000325395.5:n.*678T>G
ENST00000350303.9:c.657T>G	ENSP00000344152.5:p.Tyr219Ter
ENST00000356839.9:c.723T>G	ENSP00000349297.5:p.Tyr241Ter
ENST00000543245.6:c.792T>G	ENSP00000438689.2:p.Tyr264Ter
ENST00000577191.5:n.800T>G
ENST00000577857.5:n.539T>G
ENST00000579286.5:n.904T>G
ENST00000580365.1:n.454T>G
ENST00000581378.5:c.441T>G
ENST00000582379.1:n.107T>G
ENST00000583760.1:n.505T>G
NM_000018.3:c.723T>G	NP_000009.1:p.Tyr241Ter
NM_001033859.2:c.657T>G	NP_001029031.1:p.Tyr219Ter
NM_001270447.1:c.792T>G	NP_001257376.1:p.Tyr264Ter
NM_001270448.1:c.495T>G	NP_001257377.1:p.Tyr165Ter
XM_006721516.2:c.723T>G	XP_006721579.2:p.Tyr241Ter
XM_011523829.1:c.723T>G	XP_011522131.1:p.Tyr241Ter
XM_011523830.1:c.723T>G	XP_011522132.1:p.Tyr241Ter
XR_934021.1:n.830T>G
XR_934022.1:n.830T>G
XR_934023.1:n.830T>G
XM_006721516.3:c.723T>G	XP_006721579.2:p.Tyr241Ter
XM_011523829.2:c.723T>G	XP_011522131.1:p.Tyr241Ter
XM_011523830.2:c.723T>G	XP_011522132.1:p.Tyr241Ter
XM_024450741.1:c.723T>G	XP_024306509.1:p.Tyr241Ter
XR_934021.2:n.782T>G
XR_934022.2:n.782T>G
XR_934023.2:n.782T>G
NM_000018.4:c.723T>G MANE Select	NP_000009.1:p.Tyr241Ter
NM_001033859.3:c.657T>G	NP_001029031.1:p.Tyr219Ter
NM_001270447.2:c.792T>G	NP_001257376.1:p.Tyr264Ter
NM_001270448.2:c.495T>G	NP_001257377.1:p.Tyr165Ter