Canonical Allele Identifier: CA397725428

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127693T>G (hg19) ; chr17:g.7224374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224374T>G , CM000679.2:g.7224374T>G	GRCh38
NC_000017.10:g.7127693T>G , CM000679.1:g.7127693T>G	GRCh37
NC_000017.9:g.7068417T>G	NCBI36
NG_007975.1:g.9541T>G
NG_008391.2:g.677A>C
NG_033038.1:g.15171A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1586T>G MANE Select	ENSP00000349297.5:p.Leu529Trp
ENST00000322910.9:c.*1541T>G	ENSP00000325395.5:n.*1541T>G
ENST00000350303.9:c.1520T>G	ENSP00000344152.5:p.Leu507Trp
ENST00000356839.9:c.1586T>G	ENSP00000349297.5:p.Leu529Trp
ENST00000542255.6:c.444T>G
ENST00000543245.6:c.1655T>G	ENSP00000438689.2:p.Leu552Trp
ENST00000578319.5:n.81T>G
ENST00000578711.1:n.870T>G
ENST00000578809.5:n.158T>G
ENST00000579391.1:n.194T>G
ENST00000579425.5:n.702T>G
ENST00000579546.1:c.325T>G
ENST00000579894.5:n.373T>G
ENST00000582450.1:n.94T>G
ENST00000583074.5:n.207T>G
ENST00000583850.5:n.361T>G
ENST00000583858.5:c.517T>G
ENST00000585203.6:n.777T>G
NM_000018.3:c.1586T>G	NP_000009.1:p.Leu529Trp
NM_001033859.2:c.1520T>G	NP_001029031.1:p.Leu507Trp
NM_001270447.1:c.1655T>G	NP_001257376.1:p.Leu552Trp
NM_001270448.1:c.1358T>G	NP_001257377.1:p.Leu453Trp
XM_006721516.2:c.1586T>G	XP_006721579.2:p.Leu529Trp
XM_011523829.1:c.1488T>G	XP_011522131.1:p.Val496=
XM_011523830.1:c.1488T>G	XP_011522132.1:p.Val496=
XR_934021.1:n.1693T>G
XR_934022.1:n.1595T>G
XR_934023.1:n.1595T>G
XM_006721516.3:c.1586T>G	XP_006721579.2:p.Leu529Trp
XM_011523829.2:c.1488T>G	XP_011522131.1:p.Val496=
XM_011523830.2:c.1488T>G	XP_011522132.1:p.Val496=
XM_024450741.1:c.1488T>G	XP_024306509.1:p.Val496=
XR_934021.2:n.1645T>G
XR_934022.2:n.1547T>G
XR_934023.2:n.1547T>G
NM_000018.4:c.1586T>G MANE Select	NP_000009.1:p.Leu529Trp
NM_001033859.3:c.1520T>G	NP_001029031.1:p.Leu507Trp
NM_001270447.2:c.1655T>G	NP_001257376.1:p.Leu552Trp
NM_001270448.2:c.1358T>G	NP_001257377.1:p.Leu453Trp