Canonical Allele Identifier: CA8337737
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2184609
ClinVar RCV Id: RCV002603391
dbSNP Id: rs775849134
gnomAD v2: 17-7124850-C-T
gnomAD v4: 17-7221531-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221531C>T , CM000679.2:g.7221531C>T GRCh38
NC_000017.10:g.7124850C>T , CM000679.1:g.7124850C>T GRCh37
NC_000017.9:g.7065574C>T NCBI36
NG_007975.1:g.6698C>T
NG_008391.2:g.3520G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-7C>T MANE Select ENSP00000349297.5:n.478-7C>T
ENST00000322910.9:c.*433-7C>T ENSP00000325395.5:n.*433-7C>T
ENST00000350303.9:c.412-7C>T ENSP00000344152.5:n.412-7C>T
ENST00000356839.9:c.478-7C>T ENSP00000349297.5:n.478-7C>T
ENST00000543245.6:c.547-7C>T ENSP00000438689.2:n.547-7C>T
ENST00000577191.5:n.555-7C>T
ENST00000577433.5:n.686-7C>T
ENST00000577857.5:n.294-7C>T
ENST00000579286.5:n.659-7C>T
ENST00000579886.2:c.316-7C>T ENSP00000463246.1:n.316-7C>T
ENST00000580365.1:n.209-7C>T
ENST00000581378.5:c.189C>T
ENST00000581562.5:n.525-421C>T
ENST00000582166.1:n.459-7C>T
ENST00000583312.5:c.478-7C>T ENSP00000467920.1:n.478-7C>T
ENST00000583760.1:n.253C>T
NM_000018.3:c.478-7C>T NP_000009.1:n.478-7C>T
NM_001033859.2:c.412-7C>T NP_001029031.1:n.412-7C>T
NM_001270447.1:c.547-7C>T NP_001257376.1:n.547-7C>T
NM_001270448.1:c.250-7C>T NP_001257377.1:n.250-7C>T
XM_006721516.2:c.478-7C>T XP_006721579.2:n.478-7C>T
XM_011523829.1:c.478-7C>T XP_011522131.1:n.478-7C>T
XM_011523830.1:c.478-7C>T XP_011522132.1:n.478-7C>T
XR_934021.1:n.585-7C>T
XR_934022.1:n.585-7C>T
XR_934023.1:n.585-7C>T
XM_006721516.3:c.478-7C>T XP_006721579.2:n.478-7C>T
XM_011523829.2:c.478-7C>T XP_011522131.1:n.478-7C>T
XM_011523830.2:c.478-7C>T XP_011522132.1:n.478-7C>T
XM_024450741.1:c.478-7C>T XP_024306509.1:n.478-7C>T
XR_934021.2:n.537-7C>T
XR_934022.2:n.537-7C>T
XR_934023.2:n.537-7C>T
NM_000018.4:c.478-7C>T MANE Select NP_000009.1:n.478-7C>T
NM_001033859.3:c.412-7C>T NP_001029031.1:n.412-7C>T
NM_001270447.2:c.547-7C>T NP_001257376.1:n.547-7C>T
NM_001270448.2:c.250-7C>T NP_001257377.1:n.250-7C>T