Canonical Allele Identifier: CA2635780329
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7220880-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220880A>G , CM000679.2:g.7220880A>G GRCh38
NC_000017.10:g.7124199A>G , CM000679.1:g.7124199A>G GRCh37
NC_000017.9:g.7064923A>G NCBI36
NG_007975.1:g.6047A>G
NG_008391.2:g.4171T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.343-44A>G MANE Select ENSP00000349297.5:n.343-44A>G
ENST00000322910.9:c.*298-44A>G ENSP00000325395.5:n.*298-44A>G
ENST00000350303.9:c.277-44A>G ENSP00000344152.5:n.277-44A>G
ENST00000356839.9:c.343-44A>G ENSP00000349297.5:n.343-44A>G
ENST00000543245.6:c.412-44A>G ENSP00000438689.2:n.412-44A>G
ENST00000577191.5:n.420-44A>G
ENST00000577433.5:n.551-44A>G
ENST00000577857.5:n.293+50A>G
ENST00000579286.5:n.524-44A>G
ENST00000579886.2:c.202-65A>G ENSP00000463246.1:n.202-65A>G
ENST00000580365.1:n.74-44A>G
ENST00000581378.5:c.42-44A>G
ENST00000581562.5:n.390-44A>G
ENST00000582056.5:n.482A>G
ENST00000582166.1:n.280A>G
ENST00000582356.5:n.591A>G
ENST00000583312.5:c.343-44A>G ENSP00000467920.1:n.343-44A>G
ENST00000584103.5:c.343-11A>G ENSP00000465353.1:n.343-11A>G
NM_000018.3:c.343-44A>G NP_000009.1:n.343-44A>G
NM_001033859.2:c.277-44A>G NP_001029031.1:n.277-44A>G
NM_001270447.1:c.412-44A>G NP_001257376.1:n.412-44A>G
NM_001270448.1:c.115-44A>G NP_001257377.1:n.115-44A>G
XM_006721516.2:c.343-44A>G XP_006721579.2:n.343-44A>G
XM_011523829.1:c.343-44A>G XP_011522131.1:n.343-44A>G
XM_011523830.1:c.343-44A>G XP_011522132.1:n.343-44A>G
XR_934021.1:n.450-44A>G
XR_934022.1:n.450-44A>G
XR_934023.1:n.450-44A>G
XM_006721516.3:c.343-44A>G XP_006721579.2:n.343-44A>G
XM_011523829.2:c.343-44A>G XP_011522131.1:n.343-44A>G
XM_011523830.2:c.343-44A>G XP_011522132.1:n.343-44A>G
XM_024450741.1:c.343-44A>G XP_024306509.1:n.343-44A>G
XR_934021.2:n.402-44A>G
XR_934022.2:n.402-44A>G
XR_934023.2:n.402-44A>G
NM_000018.4:c.343-44A>G MANE Select NP_000009.1:n.343-44A>G
NM_001033859.3:c.277-44A>G NP_001029031.1:n.277-44A>G
NM_001270447.2:c.412-44A>G NP_001257376.1:n.412-44A>G
NM_001270448.2:c.115-44A>G NP_001257377.1:n.115-44A>G