Canonical Allele Identifier: CA397723211

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124962A>T (hg19) ; chr17:g.7221643A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221643A>T , CM000679.2:g.7221643A>T	GRCh38
NC_000017.10:g.7124962A>T , CM000679.1:g.7124962A>T	GRCh37
NC_000017.9:g.7065686A>T	NCBI36
NG_007975.1:g.6810A>T
NG_008391.2:g.3408T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.583A>T MANE Select	ENSP00000349297.5:p.Lys195Ter
ENST00000322910.9:c.*538A>T	ENSP00000325395.5:n.*538A>T
ENST00000350303.9:c.517A>T	ENSP00000344152.5:p.Lys173Ter
ENST00000356839.9:c.583A>T	ENSP00000349297.5:p.Lys195Ter
ENST00000543245.6:c.652A>T	ENSP00000438689.2:p.Lys218Ter
ENST00000577191.5:n.660A>T
ENST00000577433.5:n.791A>T
ENST00000577857.5:n.399A>T
ENST00000579286.5:n.764A>T
ENST00000579886.2:c.421A>T	ENSP00000463246.1:p.Lys141Ter
ENST00000580365.1:n.314A>T
ENST00000581378.5:c.301A>T
ENST00000581562.5:n.525-309A>T
ENST00000583312.5:c.583A>T	ENSP00000467920.1:p.Lys195Ter
ENST00000583760.1:n.365A>T
NM_000018.3:c.583A>T	NP_000009.1:p.Lys195Ter
NM_001033859.2:c.517A>T	NP_001029031.1:p.Lys173Ter
NM_001270447.1:c.652A>T	NP_001257376.1:p.Lys218Ter
NM_001270448.1:c.355A>T	NP_001257377.1:p.Lys119Ter
XM_006721516.2:c.583A>T	XP_006721579.2:p.Lys195Ter
XM_011523829.1:c.583A>T	XP_011522131.1:p.Lys195Ter
XM_011523830.1:c.583A>T	XP_011522132.1:p.Lys195Ter
XR_934021.1:n.690A>T
XR_934022.1:n.690A>T
XR_934023.1:n.690A>T
XM_006721516.3:c.583A>T	XP_006721579.2:p.Lys195Ter
XM_011523829.2:c.583A>T	XP_011522131.1:p.Lys195Ter
XM_011523830.2:c.583A>T	XP_011522132.1:p.Lys195Ter
XM_024450741.1:c.583A>T	XP_024306509.1:p.Lys195Ter
XR_934021.2:n.642A>T
XR_934022.2:n.642A>T
XR_934023.2:n.642A>T
NM_000018.4:c.583A>T MANE Select	NP_000009.1:p.Lys195Ter
NM_001033859.3:c.517A>T	NP_001029031.1:p.Lys173Ter
NM_001270447.2:c.652A>T	NP_001257376.1:p.Lys218Ter
NM_001270448.2:c.355A>T	NP_001257377.1:p.Lys119Ter