Canonical Allele Identifier: CA497693885

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124332G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221013G>T , CM000679.2:g.7221013G>T	GRCh38
NC_000017.10:g.7124332G>T , CM000679.1:g.7124332G>T	GRCh37
NC_000017.9:g.7065056G>T	NCBI36
NG_007975.1:g.6180G>T
NG_008391.2:g.4038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.432G>T MANE Select	ENSP00000349297.5:p.Leu144=
ENST00000322910.9:c.*387G>T	ENSP00000325395.5:n.*387G>T
ENST00000350303.9:c.366G>T	ENSP00000344152.5:p.Leu122=
ENST00000356839.9:c.432G>T	ENSP00000349297.5:p.Leu144=
ENST00000543245.6:c.501G>T	ENSP00000438689.2:p.Leu167=
ENST00000577191.5:n.509G>T
ENST00000577433.5:n.640G>T
ENST00000577857.5:n.293+183G>T
ENST00000579286.5:n.613G>T
ENST00000579886.2:c.270G>T	ENSP00000463246.1:p.Leu90=
ENST00000580365.1:n.163G>T
ENST00000581378.5:c.131G>T
ENST00000581562.5:n.479G>T
ENST00000582056.5:n.615G>T
ENST00000582166.1:n.413G>T
ENST00000583312.5:c.432G>T	ENSP00000467920.1:p.Leu144=
ENST00000584103.5:c.465G>T	ENSP00000465353.1:p.Leu155=
NM_000018.3:c.432G>T	NP_000009.1:p.Leu144=
NM_001033859.2:c.366G>T	NP_001029031.1:p.Leu122=
NM_001270447.1:c.501G>T	NP_001257376.1:p.Leu167=
NM_001270448.1:c.204G>T	NP_001257377.1:p.Leu68=
XM_006721516.2:c.432G>T	XP_006721579.2:p.Leu144=
XM_011523829.1:c.432G>T	XP_011522131.1:p.Leu144=
XM_011523830.1:c.432G>T	XP_011522132.1:p.Leu144=
XR_934021.1:n.539G>T
XR_934022.1:n.539G>T
XR_934023.1:n.539G>T
XM_006721516.3:c.432G>T	XP_006721579.2:p.Leu144=
XM_011523829.2:c.432G>T	XP_011522131.1:p.Leu144=
XM_011523830.2:c.432G>T	XP_011522132.1:p.Leu144=
XM_024450741.1:c.432G>T	XP_024306509.1:p.Leu144=
XR_934021.2:n.491G>T
XR_934022.2:n.491G>T
XR_934023.2:n.491G>T
NM_000018.4:c.432G>T MANE Select	NP_000009.1:p.Leu144=
NM_001033859.3:c.366G>T	NP_001029031.1:p.Leu122=
NM_001270447.2:c.501G>T	NP_001257376.1:p.Leu167=
NM_001270448.2:c.204G>T	NP_001257377.1:p.Leu68=