Canonical Allele Identifier: CA397725432

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1455065
• ClinVar RCV Id: RCV001939664
• dbSNP Id: rs2142987900
• MyVariant Identifiers: chr17:g.7127694G>T (hg19) ; chr17:g.7224375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224375G>T , CM000679.2:g.7224375G>T	GRCh38
NC_000017.10:g.7127694G>T , CM000679.1:g.7127694G>T	GRCh37
NC_000017.9:g.7068418G>T	NCBI36
NG_007975.1:g.9542G>T
NG_008391.2:g.676C>A
NG_033038.1:g.15170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1587G>T MANE Select	ENSP00000349297.5:p.Leu529Phe
ENST00000322910.9:c.*1542G>T	ENSP00000325395.5:n.*1542G>T
ENST00000350303.9:c.1521G>T	ENSP00000344152.5:p.Leu507Phe
ENST00000356839.9:c.1587G>T	ENSP00000349297.5:p.Leu529Phe
ENST00000542255.6:c.445G>T
ENST00000543245.6:c.1656G>T	ENSP00000438689.2:p.Leu552Phe
ENST00000578319.5:n.82G>T
ENST00000578711.1:n.871G>T
ENST00000578809.5:n.159G>T
ENST00000579391.1:n.195G>T
ENST00000579425.5:n.703G>T
ENST00000579546.1:c.326G>T
ENST00000579894.5:n.374G>T
ENST00000582450.1:n.95G>T
ENST00000583074.5:n.208G>T
ENST00000583850.5:n.362G>T
ENST00000583858.5:c.518G>T
ENST00000585203.6:n.778G>T
NM_000018.3:c.1587G>T	NP_000009.1:p.Leu529Phe
NM_001033859.2:c.1521G>T	NP_001029031.1:p.Leu507Phe
NM_001270447.1:c.1656G>T	NP_001257376.1:p.Leu552Phe
NM_001270448.1:c.1359G>T	NP_001257377.1:p.Leu453Phe
XM_006721516.2:c.1587G>T	XP_006721579.2:p.Leu529Phe
XM_011523829.1:c.1489G>T	XP_011522131.1:p.Glu497Ter
XM_011523830.1:c.1489G>T	XP_011522132.1:p.Glu497Ter
XR_934021.1:n.1694G>T
XR_934022.1:n.1596G>T
XR_934023.1:n.1596G>T
XM_006721516.3:c.1587G>T	XP_006721579.2:p.Leu529Phe
XM_011523829.2:c.1489G>T	XP_011522131.1:p.Glu497Ter
XM_011523830.2:c.1489G>T	XP_011522132.1:p.Glu497Ter
XM_024450741.1:c.1489G>T	XP_024306509.1:p.Glu497Ter
XR_934021.2:n.1646G>T
XR_934022.2:n.1548G>T
XR_934023.2:n.1548G>T
NM_000018.4:c.1587G>T MANE Select	NP_000009.1:p.Leu529Phe
NM_001033859.3:c.1521G>T	NP_001029031.1:p.Leu507Phe
NM_001270447.2:c.1656G>T	NP_001257376.1:p.Leu552Phe
NM_001270448.2:c.1359G>T	NP_001257377.1:p.Leu453Phe