Canonical Allele Identifier: CA624693647
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 762155
ClinVar RCV Id: RCV001497619
dbSNP Id: rs1300294861
gnomAD v2: 17-7124849-C-G
gnomAD v4: 17-7221530-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221530C>G , CM000679.2:g.7221530C>G GRCh38
NC_000017.10:g.7124849C>G , CM000679.1:g.7124849C>G GRCh37
NC_000017.9:g.7065573C>G NCBI36
NG_007975.1:g.6697C>G
NG_008391.2:g.3521G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-8C>G MANE Select ENSP00000349297.5:n.478-8C>G
ENST00000322910.9:c.*433-8C>G ENSP00000325395.5:n.*433-8C>G
ENST00000350303.9:c.412-8C>G ENSP00000344152.5:n.412-8C>G
ENST00000356839.9:c.478-8C>G ENSP00000349297.5:n.478-8C>G
ENST00000543245.6:c.547-8C>G ENSP00000438689.2:n.547-8C>G
ENST00000577191.5:n.555-8C>G
ENST00000577433.5:n.686-8C>G
ENST00000577857.5:n.294-8C>G
ENST00000579286.5:n.659-8C>G
ENST00000579886.2:c.316-8C>G ENSP00000463246.1:n.316-8C>G
ENST00000580365.1:n.209-8C>G
ENST00000581378.5:c.188C>G
ENST00000581562.5:n.525-422C>G
ENST00000582166.1:n.459-8C>G
ENST00000583312.5:c.478-8C>G ENSP00000467920.1:n.478-8C>G
ENST00000583760.1:n.252C>G
NM_000018.3:c.478-8C>G NP_000009.1:n.478-8C>G
NM_001033859.2:c.412-8C>G NP_001029031.1:n.412-8C>G
NM_001270447.1:c.547-8C>G NP_001257376.1:n.547-8C>G
NM_001270448.1:c.250-8C>G NP_001257377.1:n.250-8C>G
XM_006721516.2:c.478-8C>G XP_006721579.2:n.478-8C>G
XM_011523829.1:c.478-8C>G XP_011522131.1:n.478-8C>G
XM_011523830.1:c.478-8C>G XP_011522132.1:n.478-8C>G
XR_934021.1:n.585-8C>G
XR_934022.1:n.585-8C>G
XR_934023.1:n.585-8C>G
XM_006721516.3:c.478-8C>G XP_006721579.2:n.478-8C>G
XM_011523829.2:c.478-8C>G XP_011522131.1:n.478-8C>G
XM_011523830.2:c.478-8C>G XP_011522132.1:n.478-8C>G
XM_024450741.1:c.478-8C>G XP_024306509.1:n.478-8C>G
XR_934021.2:n.537-8C>G
XR_934022.2:n.537-8C>G
XR_934023.2:n.537-8C>G
NM_000018.4:c.478-8C>G MANE Select NP_000009.1:n.478-8C>G
NM_001033859.3:c.412-8C>G NP_001029031.1:n.412-8C>G
NM_001270447.2:c.547-8C>G NP_001257376.1:n.547-8C>G
NM_001270448.2:c.250-8C>G NP_001257377.1:n.250-8C>G