Canonical Allele Identifier: CA397725414

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127685C>G (hg19) ; chr17:g.7224366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224366C>G , CM000679.2:g.7224366C>G	GRCh38
NC_000017.10:g.7127685C>G , CM000679.1:g.7127685C>G	GRCh37
NC_000017.9:g.7068409C>G	NCBI36
NG_007975.1:g.9533C>G
NG_008391.2:g.685G>C
NG_033038.1:g.15179G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1578C>G MANE Select	ENSP00000349297.5:p.His526Gln
ENST00000322910.9:c.*1533C>G	ENSP00000325395.5:n.*1533C>G
ENST00000350303.9:c.1512C>G	ENSP00000344152.5:p.His504Gln
ENST00000356839.9:c.1578C>G	ENSP00000349297.5:p.His526Gln
ENST00000542255.6:c.436C>G
ENST00000543245.6:c.1647C>G	ENSP00000438689.2:p.His549Gln
ENST00000578319.5:n.73C>G
ENST00000578711.1:n.862C>G
ENST00000578809.5:n.150C>G
ENST00000579391.1:n.186C>G
ENST00000579425.5:n.694C>G
ENST00000579546.1:c.317C>G
ENST00000579894.5:n.365C>G
ENST00000582450.1:n.86C>G
ENST00000583074.5:n.199C>G
ENST00000583850.5:n.353C>G
ENST00000583858.5:c.509C>G
ENST00000585203.6:n.769C>G
NM_000018.3:c.1578C>G	NP_000009.1:p.His526Gln
NM_001033859.2:c.1512C>G	NP_001029031.1:p.His504Gln
NM_001270447.1:c.1647C>G	NP_001257376.1:p.His549Gln
NM_001270448.1:c.1350C>G	NP_001257377.1:p.His450Gln
XM_006721516.2:c.1578C>G	XP_006721579.2:p.His526Gln
XM_011523829.1:c.1480C>G	XP_011522131.1:p.Pro494Ala
XM_011523830.1:c.1480C>G	XP_011522132.1:p.Pro494Ala
XR_934021.1:n.1685C>G
XR_934022.1:n.1587C>G
XR_934023.1:n.1587C>G
XM_006721516.3:c.1578C>G	XP_006721579.2:p.His526Gln
XM_011523829.2:c.1480C>G	XP_011522131.1:p.Pro494Ala
XM_011523830.2:c.1480C>G	XP_011522132.1:p.Pro494Ala
XM_024450741.1:c.1480C>G	XP_024306509.1:p.Pro494Ala
XR_934021.2:n.1637C>G
XR_934022.2:n.1539C>G
XR_934023.2:n.1539C>G
NM_000018.4:c.1578C>G MANE Select	NP_000009.1:p.His526Gln
NM_001033859.3:c.1512C>G	NP_001029031.1:p.His504Gln
NM_001270447.2:c.1647C>G	NP_001257376.1:p.His549Gln
NM_001270448.2:c.1350C>G	NP_001257377.1:p.His450Gln