Canonical Allele Identifier: CA397725662
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224650T>A , CM000679.2:g.7224650T>A GRCh38
NC_000017.10:g.7127969T>A , CM000679.1:g.7127969T>A GRCh37
NC_000017.9:g.7068693T>A NCBI36
NG_007975.1:g.9817T>A
NG_008391.2:g.401A>T
NG_033038.1:g.14895A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1687T>A MANE Select ENSP00000349297.5:p.Phe563Ile
ENST00000322910.9:c.*1642T>A ENSP00000325395.5:n.*1642T>A
ENST00000350303.9:c.1621T>A ENSP00000344152.5:p.Phe541Ile
ENST00000356839.9:c.1687T>A ENSP00000349297.5:p.Phe563Ile
ENST00000542255.6:c.537-65T>A
ENST00000543245.6:c.1756T>A ENSP00000438689.2:p.Phe586Ile
ENST00000578033.1:n.18T>A
ENST00000578319.5:n.268T>A
ENST00000578711.1:n.1146T>A
ENST00000578809.5:n.259T>A
ENST00000579425.5:n.803T>A
ENST00000579546.1:c.422T>A
ENST00000582450.1:n.284T>A
ENST00000583074.5:n.300-65T>A
ENST00000583848.5:c.65-12T>A ENSP00000466487.1:n.65-12T>A
ENST00000583850.5:n.458T>A
ENST00000583858.5:c.618T>A
ENST00000585203.6:n.878T>A
NM_000018.3:c.1687T>A NP_000009.1:p.Phe563Ile
NM_001033859.2:c.1621T>A NP_001029031.1:p.Phe541Ile
NM_001270447.1:c.1756T>A NP_001257376.1:p.Phe586Ile
NM_001270448.1:c.1459T>A NP_001257377.1:p.Phe487Ile
XM_006721516.2:c.1679-65T>A XP_006721579.2:n.1679-65T>A
XM_011523829.1:c.1577-65T>A XP_011522131.1:n.1577-65T>A
XM_011523830.1:c.1585T>A XP_011522132.1:p.Phe529Ile
XR_934021.1:n.1790T>A
XR_934022.1:n.1696T>A
XR_934023.1:n.1688-65T>A
XM_006721516.3:c.1679-65T>A XP_006721579.2:n.1679-65T>A
XM_011523829.2:c.1577-65T>A XP_011522131.1:n.1577-65T>A
XM_011523830.2:c.1585T>A XP_011522132.1:p.Phe529Ile
XM_024450741.1:c.1675T>A XP_024306509.1:p.Phe559Ile
XR_934021.2:n.1742T>A
XR_934022.2:n.1648T>A
XR_934023.2:n.1640-65T>A
NM_000018.4:c.1687T>A MANE Select NP_000009.1:p.Phe563Ile
NM_001033859.3:c.1621T>A NP_001029031.1:p.Phe541Ile
NM_001270447.2:c.1756T>A NP_001257376.1:p.Phe586Ile
NM_001270448.2:c.1459T>A NP_001257377.1:p.Phe487Ile