Canonical Allele Identifier: CA397726075

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128322C>A (hg19) ; chr17:g.7225003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225003C>A , CM000679.2:g.7225003C>A	GRCh38
NC_000017.10:g.7128322C>A , CM000679.1:g.7128322C>A	GRCh37
NC_000017.9:g.7069046C>A	NCBI36
NG_007975.1:g.10170C>A
NG_008391.2:g.48G>T
NG_033038.1:g.14542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1874C>A MANE Select	ENSP00000349297.5:p.Pro625His
ENST00000322910.9:c.*1829C>A	ENSP00000325395.5:n.*1829C>A
ENST00000350303.9:c.1808C>A	ENSP00000344152.5:p.Pro603His
ENST00000356839.9:c.1874C>A	ENSP00000349297.5:p.Pro625His
ENST00000542255.6:c.753C>A
ENST00000543245.6:c.1943C>A	ENSP00000438689.2:p.Pro648His
ENST00000578033.1:n.299C>A
ENST00000578319.5:n.455C>A
ENST00000578711.1:n.1499C>A
ENST00000578809.5:n.446C>A
ENST00000579425.5:n.990C>A
ENST00000583848.5:c.240C>A	ENSP00000466487.1:n.240C>A
ENST00000583850.5:n.645C>A
ENST00000583858.5:c.805C>A
NM_000018.3:c.1874C>A	NP_000009.1:p.Pro625His
NM_001033859.2:c.1808C>A	NP_001029031.1:p.Pro603His
NM_001270447.1:c.1943C>A	NP_001257376.1:p.Pro648His
NM_001270448.1:c.1646C>A	NP_001257377.1:p.Pro549His
XM_006721516.2:c.1895C>A	XP_006721579.2:p.Pro632His
XM_011523829.1:c.1793C>A	XP_011522131.1:p.Pro598His
XM_011523830.1:c.1772C>A	XP_011522132.1:p.Pro591His
XR_934021.1:n.1977C>A
XR_934022.1:n.1883C>A
XR_934023.1:n.1904C>A
XM_006721516.3:c.1895C>A	XP_006721579.2:p.Pro632His
XM_011523829.2:c.1793C>A	XP_011522131.1:p.Pro598His
XM_011523830.2:c.1772C>A	XP_011522132.1:p.Pro591His
XM_024450741.1:c.1862C>A	XP_024306509.1:p.Pro621His
XR_934021.2:n.1929C>A
XR_934022.2:n.1835C>A
XR_934023.2:n.1856C>A
NM_000018.4:c.1874C>A MANE Select	NP_000009.1:p.Pro625His
NM_001033859.3:c.1808C>A	NP_001029031.1:p.Pro603His
NM_001270447.2:c.1943C>A	NP_001257376.1:p.Pro648His
NM_001270448.2:c.1646C>A	NP_001257377.1:p.Pro549His