Canonical Allele Identifier: CA397725497

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2115388
• ClinVar RCV Id: RCV003046432
• MyVariant Identifiers: chr17:g.7127809C>T (hg19) ; chr17:g.7224490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224490C>T , CM000679.2:g.7224490C>T	GRCh38
NC_000017.10:g.7127809C>T , CM000679.1:g.7127809C>T	GRCh37
NC_000017.9:g.7068533C>T	NCBI36
NG_007975.1:g.9657C>T
NG_008391.2:g.561G>A
NG_033038.1:g.15055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1616C>T MANE Select	ENSP00000349297.5:p.Ala539Val
ENST00000322910.9:c.*1571C>T	ENSP00000325395.5:n.*1571C>T
ENST00000350303.9:c.1550C>T	ENSP00000344152.5:p.Ala517Val
ENST00000356839.9:c.1616C>T	ENSP00000349297.5:p.Ala539Val
ENST00000542255.6:c.474C>T
ENST00000543245.6:c.1685C>T	ENSP00000438689.2:p.Ala562Val
ENST00000578319.5:n.197C>T
ENST00000578711.1:n.986C>T
ENST00000578809.5:n.188C>T
ENST00000579391.1:n.220C>T
ENST00000579425.5:n.732C>T
ENST00000579546.1:c.351C>T
ENST00000579894.5:n.403C>T
ENST00000582450.1:n.124C>T
ENST00000583074.5:n.237C>T
ENST00000583848.5:c.2C>T	ENSP00000466487.1:p.Ala1Val
ENST00000583850.5:n.387C>T
ENST00000583858.5:c.547C>T
ENST00000585203.6:n.807C>T
NM_000018.3:c.1616C>T	NP_000009.1:p.Ala539Val
NM_001033859.2:c.1550C>T	NP_001029031.1:p.Ala517Val
NM_001270447.1:c.1685C>T	NP_001257376.1:p.Ala562Val
NM_001270448.1:c.1388C>T	NP_001257377.1:p.Ala463Val
XM_006721516.2:c.1616C>T	XP_006721579.2:p.Ala539Val
XM_011523829.1:c.1514C>T	XP_011522131.1:p.Ala505Val
XM_011523830.1:c.1514C>T	XP_011522132.1:p.Ala505Val
XR_934021.1:n.1719C>T
XR_934022.1:n.1625C>T
XR_934023.1:n.1625C>T
XM_006721516.3:c.1616C>T	XP_006721579.2:p.Ala539Val
XM_011523829.2:c.1514C>T	XP_011522131.1:p.Ala505Val
XM_011523830.2:c.1514C>T	XP_011522132.1:p.Ala505Val
XM_024450741.1:c.1604C>T	XP_024306509.1:p.Ala535Val
XR_934021.2:n.1671C>T
XR_934022.2:n.1577C>T
XR_934023.2:n.1577C>T
NM_000018.4:c.1616C>T MANE Select	NP_000009.1:p.Ala539Val
NM_001033859.3:c.1550C>T	NP_001029031.1:p.Ala517Val
NM_001270447.2:c.1685C>T	NP_001257376.1:p.Ala562Val
NM_001270448.2:c.1388C>T	NP_001257377.1:p.Ala463Val