Canonical Allele Identifier: CA397723403

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2132484
• ClinVar RCV Id: RCV003036760
• MyVariant Identifiers: chr17:g.7125304C>A (hg19) ; chr17:g.7221985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221985C>A , CM000679.2:g.7221985C>A	GRCh38
NC_000017.10:g.7125304C>A , CM000679.1:g.7125304C>A	GRCh37
NC_000017.9:g.7066028C>A	NCBI36
NG_007975.1:g.7152C>A
NG_008391.2:g.3066G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.656C>A MANE Select	ENSP00000349297.5:p.Pro219His
ENST00000322910.9:c.*611C>A	ENSP00000325395.5:n.*611C>A
ENST00000350303.9:c.590C>A	ENSP00000344152.5:p.Pro197His
ENST00000356839.9:c.656C>A	ENSP00000349297.5:p.Pro219His
ENST00000543245.6:c.725C>A	ENSP00000438689.2:p.Pro242His
ENST00000577191.5:n.733C>A
ENST00000577857.5:n.472C>A
ENST00000579286.5:n.837C>A
ENST00000580365.1:n.387C>A
ENST00000581378.5:c.374C>A
ENST00000581562.5:n.558C>A
ENST00000582379.1:n.40C>A
ENST00000583312.5:c.671C>A	ENSP00000467920.1:p.Pro224His
ENST00000583760.1:n.438C>A
NM_000018.3:c.656C>A	NP_000009.1:p.Pro219His
NM_001033859.2:c.590C>A	NP_001029031.1:p.Pro197His
NM_001270447.1:c.725C>A	NP_001257376.1:p.Pro242His
NM_001270448.1:c.428C>A	NP_001257377.1:p.Pro143His
XM_006721516.2:c.656C>A	XP_006721579.2:p.Pro219His
XM_011523829.1:c.656C>A	XP_011522131.1:p.Pro219His
XM_011523830.1:c.656C>A	XP_011522132.1:p.Pro219His
XR_934021.1:n.763C>A
XR_934022.1:n.763C>A
XR_934023.1:n.763C>A
XM_006721516.3:c.656C>A	XP_006721579.2:p.Pro219His
XM_011523829.2:c.656C>A	XP_011522131.1:p.Pro219His
XM_011523830.2:c.656C>A	XP_011522132.1:p.Pro219His
XM_024450741.1:c.656C>A	XP_024306509.1:p.Pro219His
XR_934021.2:n.715C>A
XR_934022.2:n.715C>A
XR_934023.2:n.715C>A
NM_000018.4:c.656C>A MANE Select	NP_000009.1:p.Pro219His
NM_001033859.3:c.590C>A	NP_001029031.1:p.Pro197His
NM_001270447.2:c.725C>A	NP_001257376.1:p.Pro242His
NM_001270448.2:c.428C>A	NP_001257377.1:p.Pro143His