Canonical Allele Identifier: CA397724453

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126519A>C (hg19) ; chr17:g.7223200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223200A>C , CM000679.2:g.7223200A>C	GRCh38
NC_000017.10:g.7126519A>C , CM000679.1:g.7126519A>C	GRCh37
NC_000017.9:g.7067243A>C	NCBI36
NG_007975.1:g.8367A>C
NG_008391.2:g.1851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1145A>C MANE Select	ENSP00000349297.5:p.Lys382Thr
ENST00000322910.9:c.*1100A>C	ENSP00000325395.5:n.*1100A>C
ENST00000350303.9:c.1079A>C	ENSP00000344152.5:p.Lys360Thr
ENST00000356839.9:c.1145A>C	ENSP00000349297.5:p.Lys382Thr
ENST00000542255.6:c.3A>C
ENST00000543245.6:c.1214A>C	ENSP00000438689.2:p.Lys405Thr
ENST00000578579.2:n.94A>C
ENST00000578824.5:n.561A>C
ENST00000579425.5:n.169A>C
ENST00000582379.1:n.796A>C
ENST00000583858.5:c.174A>C
ENST00000585203.6:n.353A>C
NM_000018.3:c.1145A>C	NP_000009.1:p.Lys382Thr
NM_001033859.2:c.1079A>C	NP_001029031.1:p.Lys360Thr
NM_001270447.1:c.1214A>C	NP_001257376.1:p.Lys405Thr
NM_001270448.1:c.917A>C	NP_001257377.1:p.Lys306Thr
XM_006721516.2:c.1145A>C	XP_006721579.2:p.Lys382Thr
XM_011523829.1:c.1145A>C	XP_011522131.1:p.Lys382Thr
XM_011523830.1:c.1145A>C	XP_011522132.1:p.Lys382Thr
XR_934021.1:n.1252A>C
XR_934022.1:n.1252A>C
XR_934023.1:n.1252A>C
XM_006721516.3:c.1145A>C	XP_006721579.2:p.Lys382Thr
XM_011523829.2:c.1145A>C	XP_011522131.1:p.Lys382Thr
XM_011523830.2:c.1145A>C	XP_011522132.1:p.Lys382Thr
XM_024450741.1:c.1145A>C	XP_024306509.1:p.Lys382Thr
XR_934021.2:n.1204A>C
XR_934022.2:n.1204A>C
XR_934023.2:n.1204A>C
NM_000018.4:c.1145A>C MANE Select	NP_000009.1:p.Lys382Thr
NM_001033859.3:c.1079A>C	NP_001029031.1:p.Lys360Thr
NM_001270447.2:c.1214A>C	NP_001257376.1:p.Lys405Thr
NM_001270448.2:c.917A>C	NP_001257377.1:p.Lys306Thr