Canonical Allele Identifier: CA397725583

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127851A>C (hg19) ; chr17:g.7224532A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224532A>C , CM000679.2:g.7224532A>C	GRCh38
NC_000017.10:g.7127851A>C , CM000679.1:g.7127851A>C	GRCh37
NC_000017.9:g.7068575A>C	NCBI36
NG_007975.1:g.9699A>C
NG_008391.2:g.519T>G
NG_033038.1:g.15013T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1658A>C MANE Select	ENSP00000349297.5:p.Lys553Thr
ENST00000322910.9:c.*1613A>C	ENSP00000325395.5:n.*1613A>C
ENST00000350303.9:c.1592A>C	ENSP00000344152.5:p.Lys531Thr
ENST00000356839.9:c.1658A>C	ENSP00000349297.5:p.Lys553Thr
ENST00000542255.6:c.516A>C
ENST00000543245.6:c.1727A>C	ENSP00000438689.2:p.Lys576Thr
ENST00000578319.5:n.239A>C
ENST00000578711.1:n.1028A>C
ENST00000578809.5:n.230A>C
ENST00000579391.1:n.262A>C
ENST00000579425.5:n.774A>C
ENST00000579546.1:c.393A>C
ENST00000582450.1:n.166A>C
ENST00000583074.5:n.279A>C
ENST00000583848.5:c.44A>C	ENSP00000466487.1:p.Lys15Thr
ENST00000583850.5:n.429A>C
ENST00000583858.5:c.589A>C
ENST00000585203.6:n.849A>C
NM_000018.3:c.1658A>C	NP_000009.1:p.Lys553Thr
NM_001033859.2:c.1592A>C	NP_001029031.1:p.Lys531Thr
NM_001270447.1:c.1727A>C	NP_001257376.1:p.Lys576Thr
NM_001270448.1:c.1430A>C	NP_001257377.1:p.Lys477Thr
XM_006721516.2:c.1658A>C	XP_006721579.2:p.Lys553Thr
XM_011523829.1:c.1556A>C	XP_011522131.1:p.Lys519Thr
XM_011523830.1:c.1556A>C	XP_011522132.1:p.Lys519Thr
XR_934021.1:n.1761A>C
XR_934022.1:n.1667A>C
XR_934023.1:n.1667A>C
XM_006721516.3:c.1658A>C	XP_006721579.2:p.Lys553Thr
XM_011523829.2:c.1556A>C	XP_011522131.1:p.Lys519Thr
XM_011523830.2:c.1556A>C	XP_011522132.1:p.Lys519Thr
XM_024450741.1:c.1646A>C	XP_024306509.1:p.Lys549Thr
XR_934021.2:n.1713A>C
XR_934022.2:n.1619A>C
XR_934023.2:n.1619A>C
NM_000018.4:c.1658A>C MANE Select	NP_000009.1:p.Lys553Thr
NM_001033859.3:c.1592A>C	NP_001029031.1:p.Lys531Thr
NM_001270447.2:c.1727A>C	NP_001257376.1:p.Lys576Thr
NM_001270448.2:c.1430A>C	NP_001257377.1:p.Lys477Thr