Canonical Allele Identifier: CA397722693
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220922A>C , CM000679.2:g.7220922A>C GRCh38
NC_000017.10:g.7124241A>C , CM000679.1:g.7124241A>C GRCh37
NC_000017.9:g.7064965A>C NCBI36
NG_007975.1:g.6089A>C
NG_008391.2:g.4129T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.343-2A>C MANE Select ENSP00000349297.5:n.343-2A>C
ENST00000322910.9:c.*298-2A>C ENSP00000325395.5:n.*298-2A>C
ENST00000350303.9:c.277-2A>C ENSP00000344152.5:n.277-2A>C
ENST00000356839.9:c.343-2A>C ENSP00000349297.5:n.343-2A>C
ENST00000543245.6:c.412-2A>C ENSP00000438689.2:n.412-2A>C
ENST00000577191.5:n.420-2A>C
ENST00000577433.5:n.551-2A>C
ENST00000577857.5:n.293+92A>C
ENST00000579286.5:n.524-2A>C
ENST00000579886.2:c.202-23A>C ENSP00000463246.1:n.202-23A>C
ENST00000580365.1:n.74-2A>C
ENST00000581378.5:c.42-2A>C
ENST00000581562.5:n.390-2A>C
ENST00000582056.5:n.524A>C
ENST00000582166.1:n.322A>C
ENST00000582356.5:n.633A>C
ENST00000583312.5:c.343-2A>C ENSP00000467920.1:n.343-2A>C
ENST00000584103.5:c.374A>C ENSP00000465353.1:p.Gln125Pro
NM_000018.3:c.343-2A>C NP_000009.1:n.343-2A>C
NM_001033859.2:c.277-2A>C NP_001029031.1:n.277-2A>C
NM_001270447.1:c.412-2A>C NP_001257376.1:n.412-2A>C
NM_001270448.1:c.115-2A>C NP_001257377.1:n.115-2A>C
XM_006721516.2:c.343-2A>C XP_006721579.2:n.343-2A>C
XM_011523829.1:c.343-2A>C XP_011522131.1:n.343-2A>C
XM_011523830.1:c.343-2A>C XP_011522132.1:n.343-2A>C
XR_934021.1:n.450-2A>C
XR_934022.1:n.450-2A>C
XR_934023.1:n.450-2A>C
XM_006721516.3:c.343-2A>C XP_006721579.2:n.343-2A>C
XM_011523829.2:c.343-2A>C XP_011522131.1:n.343-2A>C
XM_011523830.2:c.343-2A>C XP_011522132.1:n.343-2A>C
XM_024450741.1:c.343-2A>C XP_024306509.1:n.343-2A>C
XR_934021.2:n.402-2A>C
XR_934022.2:n.402-2A>C
XR_934023.2:n.402-2A>C
NM_000018.4:c.343-2A>C MANE Select NP_000009.1:n.343-2A>C
NM_001033859.3:c.277-2A>C NP_001029031.1:n.277-2A>C
NM_001270447.2:c.412-2A>C NP_001257376.1:n.412-2A>C
NM_001270448.2:c.115-2A>C NP_001257377.1:n.115-2A>C