Canonical Allele Identifier: CA497619726

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124913G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221594G>C , CM000679.2:g.7221594G>C	GRCh38
NC_000017.10:g.7124913G>C , CM000679.1:g.7124913G>C	GRCh37
NC_000017.9:g.7065637G>C	NCBI36
NG_007975.1:g.6761G>C
NG_008391.2:g.3457C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.534G>C MANE Select	ENSP00000349297.5:p.Leu178=
ENST00000322910.9:c.*489G>C	ENSP00000325395.5:n.*489G>C
ENST00000350303.9:c.468G>C	ENSP00000344152.5:p.Leu156=
ENST00000356839.9:c.534G>C	ENSP00000349297.5:p.Leu178=
ENST00000543245.6:c.603G>C	ENSP00000438689.2:p.Leu201=
ENST00000577191.5:n.611G>C
ENST00000577433.5:n.742G>C
ENST00000577857.5:n.350G>C
ENST00000579286.5:n.715G>C
ENST00000579886.2:c.372G>C	ENSP00000463246.1:p.Leu124=
ENST00000580365.1:n.265G>C
ENST00000581378.5:c.252G>C
ENST00000581562.5:n.525-358G>C
ENST00000582166.1:n.515G>C
ENST00000583312.5:c.534G>C	ENSP00000467920.1:p.Leu178=
ENST00000583760.1:n.316G>C
NM_000018.3:c.534G>C	NP_000009.1:p.Leu178=
NM_001033859.2:c.468G>C	NP_001029031.1:p.Leu156=
NM_001270447.1:c.603G>C	NP_001257376.1:p.Leu201=
NM_001270448.1:c.306G>C	NP_001257377.1:p.Leu102=
XM_006721516.2:c.534G>C	XP_006721579.2:p.Leu178=
XM_011523829.1:c.534G>C	XP_011522131.1:p.Leu178=
XM_011523830.1:c.534G>C	XP_011522132.1:p.Leu178=
XR_934021.1:n.641G>C
XR_934022.1:n.641G>C
XR_934023.1:n.641G>C
XM_006721516.3:c.534G>C	XP_006721579.2:p.Leu178=
XM_011523829.2:c.534G>C	XP_011522131.1:p.Leu178=
XM_011523830.2:c.534G>C	XP_011522132.1:p.Leu178=
XM_024450741.1:c.534G>C	XP_024306509.1:p.Leu178=
XR_934021.2:n.593G>C
XR_934022.2:n.593G>C
XR_934023.2:n.593G>C
NM_000018.4:c.534G>C MANE Select	NP_000009.1:p.Leu178=
NM_001033859.3:c.468G>C	NP_001029031.1:p.Leu156=
NM_001270447.2:c.603G>C	NP_001257376.1:p.Leu201=
NM_001270448.2:c.306G>C	NP_001257377.1:p.Leu102=