Canonical Allele Identifier: CA397723402

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2759049
• ClinVar RCV Id: RCV003498560
• dbSNP Id: rs772898391
• MyVariant Identifiers: chr17:g.7125303C>T (hg19) ; chr17:g.7221984C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.655C>T MANE Select	ENSP00000349297.5:p.Pro219Ser
ENST00000322910.9:c.*610C>T	ENSP00000325395.5:n.*610C>T
ENST00000350303.9:c.589C>T	ENSP00000344152.5:p.Pro197Ser
ENST00000356839.9:c.655C>T	ENSP00000349297.5:p.Pro219Ser
ENST00000543245.6:c.724C>T	ENSP00000438689.2:p.Pro242Ser
ENST00000577191.5:n.732C>T
ENST00000577857.5:n.471C>T
ENST00000579286.5:n.836C>T
ENST00000580365.1:n.386C>T
ENST00000581378.5:c.373C>T
ENST00000581562.5:n.557C>T
ENST00000582379.1:n.39C>T
ENST00000583312.5:c.670C>T	ENSP00000467920.1:p.Pro224Ser
ENST00000583760.1:n.437C>T
NM_000018.3:c.655C>T	NP_000009.1:p.Pro219Ser
NM_001033859.2:c.589C>T	NP_001029031.1:p.Pro197Ser
NM_001270447.1:c.724C>T	NP_001257376.1:p.Pro242Ser
NM_001270448.1:c.427C>T	NP_001257377.1:p.Pro143Ser
XM_006721516.2:c.655C>T	XP_006721579.2:p.Pro219Ser
XM_011523829.1:c.655C>T	XP_011522131.1:p.Pro219Ser
XM_011523830.1:c.655C>T	XP_011522132.1:p.Pro219Ser
XR_934021.1:n.762C>T
XR_934022.1:n.762C>T
XR_934023.1:n.762C>T
XM_006721516.3:c.655C>T	XP_006721579.2:p.Pro219Ser
XM_011523829.2:c.655C>T	XP_011522131.1:p.Pro219Ser
XM_011523830.2:c.655C>T	XP_011522132.1:p.Pro219Ser
XM_024450741.1:c.655C>T	XP_024306509.1:p.Pro219Ser
XR_934021.2:n.714C>T
XR_934022.2:n.714C>T
XR_934023.2:n.714C>T
NM_000018.4:c.655C>T MANE Select	NP_000009.1:p.Pro219Ser
NM_001033859.3:c.589C>T	NP_001029031.1:p.Pro197Ser
NM_001270447.2:c.724C>T	NP_001257376.1:p.Pro242Ser
NM_001270448.2:c.427C>T	NP_001257377.1:p.Pro143Ser