Canonical Allele Identifier: CA397723395

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221981-G-T
• MyVariant Identifiers: chr17:g.7125300G>T (hg19) ; chr17:g.7221981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221981G>T , CM000679.2:g.7221981G>T	GRCh38
NC_000017.10:g.7125300G>T , CM000679.1:g.7125300G>T	GRCh37
NC_000017.9:g.7066024G>T	NCBI36
NG_007975.1:g.7148G>T
NG_008391.2:g.3070C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.652G>T MANE Select	ENSP00000349297.5:p.Glu218Ter
ENST00000322910.9:c.*607G>T	ENSP00000325395.5:n.*607G>T
ENST00000350303.9:c.586G>T	ENSP00000344152.5:p.Glu196Ter
ENST00000356839.9:c.652G>T	ENSP00000349297.5:p.Glu218Ter
ENST00000543245.6:c.721G>T	ENSP00000438689.2:p.Glu241Ter
ENST00000577191.5:n.729G>T
ENST00000577857.5:n.468G>T
ENST00000579286.5:n.833G>T
ENST00000580365.1:n.383G>T
ENST00000581378.5:c.370G>T
ENST00000581562.5:n.554G>T
ENST00000582379.1:n.36G>T
ENST00000583312.5:c.667G>T	ENSP00000467920.1:p.Glu223Ter
ENST00000583760.1:n.434G>T
NM_000018.3:c.652G>T	NP_000009.1:p.Glu218Ter
NM_001033859.2:c.586G>T	NP_001029031.1:p.Glu196Ter
NM_001270447.1:c.721G>T	NP_001257376.1:p.Glu241Ter
NM_001270448.1:c.424G>T	NP_001257377.1:p.Glu142Ter
XM_006721516.2:c.652G>T	XP_006721579.2:p.Glu218Ter
XM_011523829.1:c.652G>T	XP_011522131.1:p.Glu218Ter
XM_011523830.1:c.652G>T	XP_011522132.1:p.Glu218Ter
XR_934021.1:n.759G>T
XR_934022.1:n.759G>T
XR_934023.1:n.759G>T
XM_006721516.3:c.652G>T	XP_006721579.2:p.Glu218Ter
XM_011523829.2:c.652G>T	XP_011522131.1:p.Glu218Ter
XM_011523830.2:c.652G>T	XP_011522132.1:p.Glu218Ter
XM_024450741.1:c.652G>T	XP_024306509.1:p.Glu218Ter
XR_934021.2:n.711G>T
XR_934022.2:n.711G>T
XR_934023.2:n.711G>T
NM_000018.4:c.652G>T MANE Select	NP_000009.1:p.Glu218Ter
NM_001033859.3:c.586G>T	NP_001029031.1:p.Glu196Ter
NM_001270447.2:c.721G>T	NP_001257376.1:p.Glu241Ter
NM_001270448.2:c.424G>T	NP_001257377.1:p.Glu142Ter