Canonical Allele Identifier: CA397723041
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071227136

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221560T>G , CM000679.2:g.7221560T>G GRCh38
NC_000017.10:g.7124879T>G , CM000679.1:g.7124879T>G GRCh37
NC_000017.9:g.7065603T>G NCBI36
NG_007975.1:g.6727T>G
NG_008391.2:g.3491A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.500T>G MANE Select ENSP00000349297.5:p.Val167Gly
ENST00000322910.9:c.*455T>G ENSP00000325395.5:n.*455T>G
ENST00000350303.9:c.434T>G ENSP00000344152.5:p.Val145Gly
ENST00000356839.9:c.500T>G ENSP00000349297.5:p.Val167Gly
ENST00000543245.6:c.569T>G ENSP00000438689.2:p.Val190Gly
ENST00000577191.5:n.577T>G
ENST00000577433.5:n.708T>G
ENST00000577857.5:n.316T>G
ENST00000579286.5:n.681T>G
ENST00000579886.2:c.338T>G ENSP00000463246.1:p.Val113Gly
ENST00000580365.1:n.231T>G
ENST00000581378.5:c.218T>G
ENST00000581562.5:n.525-392T>G
ENST00000582166.1:n.481T>G
ENST00000583312.5:c.500T>G ENSP00000467920.1:p.Val167Gly
ENST00000583760.1:n.282T>G
NM_000018.3:c.500T>G NP_000009.1:p.Val167Gly
NM_001033859.2:c.434T>G NP_001029031.1:p.Val145Gly
NM_001270447.1:c.569T>G NP_001257376.1:p.Val190Gly
NM_001270448.1:c.272T>G NP_001257377.1:p.Val91Gly
XM_006721516.2:c.500T>G XP_006721579.2:p.Val167Gly
XM_011523829.1:c.500T>G XP_011522131.1:p.Val167Gly
XM_011523830.1:c.500T>G XP_011522132.1:p.Val167Gly
XR_934021.1:n.607T>G
XR_934022.1:n.607T>G
XR_934023.1:n.607T>G
XM_006721516.3:c.500T>G XP_006721579.2:p.Val167Gly
XM_011523829.2:c.500T>G XP_011522131.1:p.Val167Gly
XM_011523830.2:c.500T>G XP_011522132.1:p.Val167Gly
XM_024450741.1:c.500T>G XP_024306509.1:p.Val167Gly
XR_934021.2:n.559T>G
XR_934022.2:n.559T>G
XR_934023.2:n.559T>G
NM_000018.4:c.500T>G MANE Select NP_000009.1:p.Val167Gly
NM_001033859.3:c.434T>G NP_001029031.1:p.Val145Gly
NM_001270447.2:c.569T>G NP_001257376.1:p.Val190Gly
NM_001270448.2:c.272T>G NP_001257377.1:p.Val91Gly