Canonical Allele Identifier: CA397725735
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071395398

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224686C>T , CM000679.2:g.7224686C>T GRCh38
NC_000017.10:g.7128005C>T , CM000679.1:g.7128005C>T GRCh37
NC_000017.9:g.7068729C>T NCBI36
NG_007975.1:g.9853C>T
NG_008391.2:g.365G>A
NG_033038.1:g.14859G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1723C>T MANE Select ENSP00000349297.5:p.Leu575Phe
ENST00000322910.9:c.*1678C>T ENSP00000325395.5:n.*1678C>T
ENST00000350303.9:c.1657C>T ENSP00000344152.5:p.Leu553Phe
ENST00000356839.9:c.1723C>T ENSP00000349297.5:p.Leu575Phe
ENST00000542255.6:c.537-29C>T
ENST00000543245.6:c.1792C>T ENSP00000438689.2:p.Leu598Phe
ENST00000578033.1:n.54C>T
ENST00000578319.5:n.304C>T
ENST00000578711.1:n.1182C>T
ENST00000578809.5:n.295C>T
ENST00000579425.5:n.839C>T
ENST00000579546.1:c.458C>T
ENST00000583074.5:n.300-29C>T
ENST00000583848.5:c.89C>T ENSP00000466487.1:p.Pro30Leu
ENST00000583850.5:n.494C>T
ENST00000583858.5:c.654C>T
ENST00000585203.6:n.914C>T
NM_000018.3:c.1723C>T NP_000009.1:p.Leu575Phe
NM_001033859.2:c.1657C>T NP_001029031.1:p.Leu553Phe
NM_001270447.1:c.1792C>T NP_001257376.1:p.Leu598Phe
NM_001270448.1:c.1495C>T NP_001257377.1:p.Leu499Phe
XM_006721516.2:c.1679-29C>T XP_006721579.2:n.1679-29C>T
XM_011523829.1:c.1577-29C>T XP_011522131.1:n.1577-29C>T
XM_011523830.1:c.1621C>T XP_011522132.1:p.Leu541Phe
XR_934021.1:n.1826C>T
XR_934022.1:n.1732C>T
XR_934023.1:n.1688-29C>T
XM_006721516.3:c.1679-29C>T XP_006721579.2:n.1679-29C>T
XM_011523829.2:c.1577-29C>T XP_011522131.1:n.1577-29C>T
XM_011523830.2:c.1621C>T XP_011522132.1:p.Leu541Phe
XM_024450741.1:c.1711C>T XP_024306509.1:p.Leu571Phe
XR_934021.2:n.1778C>T
XR_934022.2:n.1684C>T
XR_934023.2:n.1640-29C>T
NM_000018.4:c.1723C>T MANE Select NP_000009.1:p.Leu575Phe
NM_001033859.3:c.1657C>T NP_001029031.1:p.Leu553Phe
NM_001270447.2:c.1792C>T NP_001257376.1:p.Leu598Phe
NM_001270448.2:c.1495C>T NP_001257377.1:p.Leu499Phe