Canonical Allele Identifier: CA497693870

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124323C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221004C>A , CM000679.2:g.7221004C>A	GRCh38
NC_000017.10:g.7124323C>A , CM000679.1:g.7124323C>A	GRCh37
NC_000017.9:g.7065047C>A	NCBI36
NG_007975.1:g.6171C>A
NG_008391.2:g.4047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.423C>A MANE Select	ENSP00000349297.5:p.Ala141=
ENST00000322910.9:c.*378C>A	ENSP00000325395.5:n.*378C>A
ENST00000350303.9:c.357C>A	ENSP00000344152.5:p.Ala119=
ENST00000356839.9:c.423C>A	ENSP00000349297.5:p.Ala141=
ENST00000543245.6:c.492C>A	ENSP00000438689.2:p.Ala164=
ENST00000577191.5:n.500C>A
ENST00000577433.5:n.631C>A
ENST00000577857.5:n.293+174C>A
ENST00000579286.5:n.604C>A
ENST00000579886.2:c.261C>A	ENSP00000463246.1:p.Ala87=
ENST00000580365.1:n.154C>A
ENST00000581378.5:c.122C>A
ENST00000581562.5:n.470C>A
ENST00000582056.5:n.606C>A
ENST00000582166.1:n.404C>A
ENST00000583312.5:c.423C>A	ENSP00000467920.1:p.Ala141=
ENST00000584103.5:c.456C>A	ENSP00000465353.1:p.Ala152=
NM_000018.3:c.423C>A	NP_000009.1:p.Ala141=
NM_001033859.2:c.357C>A	NP_001029031.1:p.Ala119=
NM_001270447.1:c.492C>A	NP_001257376.1:p.Ala164=
NM_001270448.1:c.195C>A	NP_001257377.1:p.Ala65=
XM_006721516.2:c.423C>A	XP_006721579.2:p.Ala141=
XM_011523829.1:c.423C>A	XP_011522131.1:p.Ala141=
XM_011523830.1:c.423C>A	XP_011522132.1:p.Ala141=
XR_934021.1:n.530C>A
XR_934022.1:n.530C>A
XR_934023.1:n.530C>A
XM_006721516.3:c.423C>A	XP_006721579.2:p.Ala141=
XM_011523829.2:c.423C>A	XP_011522131.1:p.Ala141=
XM_011523830.2:c.423C>A	XP_011522132.1:p.Ala141=
XM_024450741.1:c.423C>A	XP_024306509.1:p.Ala141=
XR_934021.2:n.482C>A
XR_934022.2:n.482C>A
XR_934023.2:n.482C>A
NM_000018.4:c.423C>A MANE Select	NP_000009.1:p.Ala141=
NM_001033859.3:c.357C>A	NP_001029031.1:p.Ala119=
NM_001270447.2:c.492C>A	NP_001257376.1:p.Ala164=
NM_001270448.2:c.195C>A	NP_001257377.1:p.Ala65=