Canonical Allele Identifier: CA397722740

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124262A>C (hg19) ; chr17:g.7220943A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220943A>C , CM000679.2:g.7220943A>C	GRCh38
NC_000017.10:g.7124262A>C , CM000679.1:g.7124262A>C	GRCh37
NC_000017.9:g.7064986A>C	NCBI36
NG_007975.1:g.6110A>C
NG_008391.2:g.4108T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.362A>C MANE Select	ENSP00000349297.5:p.Lys121Thr
ENST00000322910.9:c.*317A>C	ENSP00000325395.5:n.*317A>C
ENST00000350303.9:c.296A>C	ENSP00000344152.5:p.Lys99Thr
ENST00000356839.9:c.362A>C	ENSP00000349297.5:p.Lys121Thr
ENST00000543245.6:c.431A>C	ENSP00000438689.2:p.Lys144Thr
ENST00000577191.5:n.439A>C
ENST00000577433.5:n.570A>C
ENST00000577857.5:n.293+113A>C
ENST00000579286.5:n.543A>C
ENST00000579886.2:c.202-2A>C	ENSP00000463246.1:n.202-2A>C
ENST00000580365.1:n.93A>C
ENST00000581378.5:c.61A>C
ENST00000581562.5:n.409A>C
ENST00000582056.5:n.545A>C
ENST00000582166.1:n.343A>C
ENST00000583312.5:c.362A>C	ENSP00000467920.1:p.Lys121Thr
ENST00000584103.5:c.395A>C	ENSP00000465353.1:p.Lys132Thr
NM_000018.3:c.362A>C	NP_000009.1:p.Lys121Thr
NM_001033859.2:c.296A>C	NP_001029031.1:p.Lys99Thr
NM_001270447.1:c.431A>C	NP_001257376.1:p.Lys144Thr
NM_001270448.1:c.134A>C	NP_001257377.1:p.Lys45Thr
XM_006721516.2:c.362A>C	XP_006721579.2:p.Lys121Thr
XM_011523829.1:c.362A>C	XP_011522131.1:p.Lys121Thr
XM_011523830.1:c.362A>C	XP_011522132.1:p.Lys121Thr
XR_934021.1:n.469A>C
XR_934022.1:n.469A>C
XR_934023.1:n.469A>C
XM_006721516.3:c.362A>C	XP_006721579.2:p.Lys121Thr
XM_011523829.2:c.362A>C	XP_011522131.1:p.Lys121Thr
XM_011523830.2:c.362A>C	XP_011522132.1:p.Lys121Thr
XM_024450741.1:c.362A>C	XP_024306509.1:p.Lys121Thr
XR_934021.2:n.421A>C
XR_934022.2:n.421A>C
XR_934023.2:n.421A>C
NM_000018.4:c.362A>C MANE Select	NP_000009.1:p.Lys121Thr
NM_001033859.3:c.296A>C	NP_001029031.1:p.Lys99Thr
NM_001270447.2:c.431A>C	NP_001257376.1:p.Lys144Thr
NM_001270448.2:c.134A>C	NP_001257377.1:p.Lys45Thr