Canonical Allele Identifier: CA497694256

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128013C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224694C>A , CM000679.2:g.7224694C>A	GRCh38
NC_000017.10:g.7128013C>A , CM000679.1:g.7128013C>A	GRCh37
NC_000017.9:g.7068737C>A	NCBI36
NG_007975.1:g.9861C>A
NG_008391.2:g.357G>T
NG_033038.1:g.14851G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1731C>A MANE Select	ENSP00000349297.5:p.Ala577=
ENST00000322910.9:c.*1686C>A	ENSP00000325395.5:n.*1686C>A
ENST00000350303.9:c.1665C>A	ENSP00000344152.5:p.Ala555=
ENST00000356839.9:c.1731C>A	ENSP00000349297.5:p.Ala577=
ENST00000542255.6:c.537-21C>A
ENST00000543245.6:c.1800C>A	ENSP00000438689.2:p.Ala600=
ENST00000578033.1:n.62C>A
ENST00000578319.5:n.312C>A
ENST00000578711.1:n.1190C>A
ENST00000578809.5:n.303C>A
ENST00000579425.5:n.847C>A
ENST00000579546.1:c.466C>A
ENST00000583074.5:n.300-21C>A
ENST00000583848.5:c.97C>A	ENSP00000466487.1:p.His33Asn
ENST00000583850.5:n.502C>A
ENST00000583858.5:c.662C>A
ENST00000585203.6:n.922C>A
NM_000018.3:c.1731C>A	NP_000009.1:p.Ala577=
NM_001033859.2:c.1665C>A	NP_001029031.1:p.Ala555=
NM_001270447.1:c.1800C>A	NP_001257376.1:p.Ala600=
NM_001270448.1:c.1503C>A	NP_001257377.1:p.Ala501=
XM_006721516.2:c.1679-21C>A	XP_006721579.2:n.1679-21C>A
XM_011523829.1:c.1577-21C>A	XP_011522131.1:n.1577-21C>A
XM_011523830.1:c.1629C>A	XP_011522132.1:p.Ala543=
XR_934021.1:n.1834C>A
XR_934022.1:n.1740C>A
XR_934023.1:n.1688-21C>A
XM_006721516.3:c.1679-21C>A	XP_006721579.2:n.1679-21C>A
XM_011523829.2:c.1577-21C>A	XP_011522131.1:n.1577-21C>A
XM_011523830.2:c.1629C>A	XP_011522132.1:p.Ala543=
XM_024450741.1:c.1719C>A	XP_024306509.1:p.Ala573=
XR_934021.2:n.1786C>A
XR_934022.2:n.1692C>A
XR_934023.2:n.1640-21C>A
NM_000018.4:c.1731C>A MANE Select	NP_000009.1:p.Ala577=
NM_001033859.3:c.1665C>A	NP_001029031.1:p.Ala555=
NM_001270447.2:c.1800C>A	NP_001257376.1:p.Ala600=
NM_001270448.2:c.1503C>A	NP_001257377.1:p.Ala501=