Canonical Allele Identifier: CA2580094784
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2073296
ClinVar RCV Id: RCV002944020

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221525G>A , CM000679.2:g.7221525G>A GRCh38
NC_000017.10:g.7124844G>A , CM000679.1:g.7124844G>A GRCh37
NC_000017.9:g.7065568G>A NCBI36
NG_007975.1:g.6692G>A
NG_008391.2:g.3526C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-13G>A MANE Select ENSP00000349297.5:n.478-13G>A
ENST00000322910.9:c.*433-13G>A ENSP00000325395.5:n.*433-13G>A
ENST00000350303.9:c.412-13G>A ENSP00000344152.5:n.412-13G>A
ENST00000356839.9:c.478-13G>A ENSP00000349297.5:n.478-13G>A
ENST00000543245.6:c.547-13G>A ENSP00000438689.2:n.547-13G>A
ENST00000577191.5:n.555-13G>A
ENST00000577433.5:n.686-13G>A
ENST00000577857.5:n.294-13G>A
ENST00000579286.5:n.659-13G>A
ENST00000579886.2:c.316-13G>A ENSP00000463246.1:n.316-13G>A
ENST00000580365.1:n.209-13G>A
ENST00000581378.5:c.183G>A
ENST00000581562.5:n.525-427G>A
ENST00000582166.1:n.459-13G>A
ENST00000583312.5:c.478-13G>A ENSP00000467920.1:n.478-13G>A
ENST00000583760.1:n.247G>A
NM_000018.3:c.478-13G>A NP_000009.1:n.478-13G>A
NM_001033859.2:c.412-13G>A NP_001029031.1:n.412-13G>A
NM_001270447.1:c.547-13G>A NP_001257376.1:n.547-13G>A
NM_001270448.1:c.250-13G>A NP_001257377.1:n.250-13G>A
XM_006721516.2:c.478-13G>A XP_006721579.2:n.478-13G>A
XM_011523829.1:c.478-13G>A XP_011522131.1:n.478-13G>A
XM_011523830.1:c.478-13G>A XP_011522132.1:n.478-13G>A
XR_934021.1:n.585-13G>A
XR_934022.1:n.585-13G>A
XR_934023.1:n.585-13G>A
XM_006721516.3:c.478-13G>A XP_006721579.2:n.478-13G>A
XM_011523829.2:c.478-13G>A XP_011522131.1:n.478-13G>A
XM_011523830.2:c.478-13G>A XP_011522132.1:n.478-13G>A
XM_024450741.1:c.478-13G>A XP_024306509.1:n.478-13G>A
XR_934021.2:n.537-13G>A
XR_934022.2:n.537-13G>A
XR_934023.2:n.537-13G>A
NM_000018.4:c.478-13G>A MANE Select NP_000009.1:n.478-13G>A
NM_001033859.3:c.412-13G>A NP_001029031.1:n.412-13G>A
NM_001270447.2:c.547-13G>A NP_001257376.1:n.547-13G>A
NM_001270448.2:c.250-13G>A NP_001257377.1:n.250-13G>A