Canonical Allele Identifier: CA397723401

Gene: ACADVL

Linked Data

• dbSNP Id: rs772898391
• gnomAD v2: 17-7125303-C-G
• gnomAD v4: 17-7221984-C-G
• MyVariant Identifiers: chr17:g.7125303C>G (hg19) ; chr17:g.7221984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221984C>G , CM000679.2:g.7221984C>G	GRCh38
NC_000017.10:g.7125303C>G , CM000679.1:g.7125303C>G	GRCh37
NC_000017.9:g.7066027C>G	NCBI36
NG_007975.1:g.7151C>G
NG_008391.2:g.3067G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.655C>G MANE Select	ENSP00000349297.5:p.Pro219Ala
ENST00000322910.9:c.*610C>G	ENSP00000325395.5:n.*610C>G
ENST00000350303.9:c.589C>G	ENSP00000344152.5:p.Pro197Ala
ENST00000356839.9:c.655C>G	ENSP00000349297.5:p.Pro219Ala
ENST00000543245.6:c.724C>G	ENSP00000438689.2:p.Pro242Ala
ENST00000577191.5:n.732C>G
ENST00000577857.5:n.471C>G
ENST00000579286.5:n.836C>G
ENST00000580365.1:n.386C>G
ENST00000581378.5:c.373C>G
ENST00000581562.5:n.557C>G
ENST00000582379.1:n.39C>G
ENST00000583312.5:c.670C>G	ENSP00000467920.1:p.Pro224Ala
ENST00000583760.1:n.437C>G
NM_000018.3:c.655C>G	NP_000009.1:p.Pro219Ala
NM_001033859.2:c.589C>G	NP_001029031.1:p.Pro197Ala
NM_001270447.1:c.724C>G	NP_001257376.1:p.Pro242Ala
NM_001270448.1:c.427C>G	NP_001257377.1:p.Pro143Ala
XM_006721516.2:c.655C>G	XP_006721579.2:p.Pro219Ala
XM_011523829.1:c.655C>G	XP_011522131.1:p.Pro219Ala
XM_011523830.1:c.655C>G	XP_011522132.1:p.Pro219Ala
XR_934021.1:n.762C>G
XR_934022.1:n.762C>G
XR_934023.1:n.762C>G
XM_006721516.3:c.655C>G	XP_006721579.2:p.Pro219Ala
XM_011523829.2:c.655C>G	XP_011522131.1:p.Pro219Ala
XM_011523830.2:c.655C>G	XP_011522132.1:p.Pro219Ala
XM_024450741.1:c.655C>G	XP_024306509.1:p.Pro219Ala
XR_934021.2:n.714C>G
XR_934022.2:n.714C>G
XR_934023.2:n.714C>G
NM_000018.4:c.655C>G MANE Select	NP_000009.1:p.Pro219Ala
NM_001033859.3:c.589C>G	NP_001029031.1:p.Pro197Ala
NM_001270447.2:c.724C>G	NP_001257376.1:p.Pro242Ala
NM_001270448.2:c.427C>G	NP_001257377.1:p.Pro143Ala