Canonical Allele Identifier: CA2245699790
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071213866

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221429A>C , CM000679.2:g.7221429A>C GRCh38
NC_000017.10:g.7124748A>C , CM000679.1:g.7124748A>C GRCh37
NC_000017.9:g.7065472A>C NCBI36
NG_007975.1:g.6596A>C
NG_008391.2:g.3622T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-109A>C MANE Select ENSP00000349297.5:n.478-109A>C
ENST00000322910.9:c.*433-109A>C ENSP00000325395.5:n.*433-109A>C
ENST00000350303.9:c.412-109A>C ENSP00000344152.5:n.412-109A>C
ENST00000356839.9:c.478-109A>C ENSP00000349297.5:n.478-109A>C
ENST00000543245.6:c.547-109A>C ENSP00000438689.2:n.547-109A>C
ENST00000577191.5:n.555-109A>C
ENST00000577433.5:n.686-109A>C
ENST00000577857.5:n.294-109A>C
ENST00000579286.5:n.659-109A>C
ENST00000579886.2:c.316-109A>C ENSP00000463246.1:n.316-109A>C
ENST00000580365.1:n.209-109A>C
ENST00000581378.5:c.177-90A>C
ENST00000581562.5:n.524+371A>C
ENST00000582166.1:n.459-109A>C
ENST00000583312.5:c.478-109A>C ENSP00000467920.1:n.478-109A>C
ENST00000583760.1:n.151A>C
NM_000018.3:c.478-109A>C NP_000009.1:n.478-109A>C
NM_001033859.2:c.412-109A>C NP_001029031.1:n.412-109A>C
NM_001270447.1:c.547-109A>C NP_001257376.1:n.547-109A>C
NM_001270448.1:c.250-109A>C NP_001257377.1:n.250-109A>C
XM_006721516.2:c.478-109A>C XP_006721579.2:n.478-109A>C
XM_011523829.1:c.478-109A>C XP_011522131.1:n.478-109A>C
XM_011523830.1:c.478-109A>C XP_011522132.1:n.478-109A>C
XR_934021.1:n.585-109A>C
XR_934022.1:n.585-109A>C
XR_934023.1:n.585-109A>C
XM_006721516.3:c.478-109A>C XP_006721579.2:n.478-109A>C
XM_011523829.2:c.478-109A>C XP_011522131.1:n.478-109A>C
XM_011523830.2:c.478-109A>C XP_011522132.1:n.478-109A>C
XM_024450741.1:c.478-109A>C XP_024306509.1:n.478-109A>C
XR_934021.2:n.537-109A>C
XR_934022.2:n.537-109A>C
XR_934023.2:n.537-109A>C
NM_000018.4:c.478-109A>C MANE Select NP_000009.1:n.478-109A>C
NM_001033859.3:c.412-109A>C NP_001029031.1:n.412-109A>C
NM_001270447.2:c.547-109A>C NP_001257376.1:n.547-109A>C
NM_001270448.2:c.250-109A>C NP_001257377.1:n.250-109A>C