Canonical Allele Identifier: CA497693772
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124943C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221624C>G , CM000679.2:g.7221624C>G GRCh38
NC_000017.10:g.7124943C>G , CM000679.1:g.7124943C>G GRCh37
NC_000017.9:g.7065667C>G NCBI36
NG_007975.1:g.6791C>G
NG_008391.2:g.3427G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.564C>G MANE Select ENSP00000349297.5:p.Gly188=
ENST00000322910.9:c.*519C>G ENSP00000325395.5:p.=
ENST00000350303.9:c.498C>G ENSP00000344152.5:p.Gly166=
ENST00000356839.9:c.564C>G ENSP00000349297.5:p.Gly188=
ENST00000543245.6:c.633C>G ENSP00000438689.2:p.Gly211=
ENST00000577191.5:n.641C>G
ENST00000577433.5:n.772C>G
ENST00000577857.5:n.380C>G
ENST00000579286.5:n.745C>G
ENST00000579886.2:c.402C>G ENSP00000463246.1:p.Gly134=
ENST00000580365.1:n.295C>G
ENST00000581378.5:n.282C>G
ENST00000581562.5:n.525-328C>G
ENST00000582166.1:n.545C>G
ENST00000583312.5:c.564C>G ENSP00000467920.1:p.Gly188=
ENST00000583760.1:n.346C>G
NM_000018.3:c.564C>G NP_000009.1:p.Gly188=
NM_001033859.2:c.498C>G NP_001029031.1:p.Gly166=
NM_001270447.1:c.633C>G NP_001257376.1:p.Gly211=
NM_001270448.1:c.336C>G NP_001257377.1:p.Gly112=
XM_006721516.2:c.564C>G XP_006721579.2:p.Gly188=
XM_011523829.1:c.564C>G XP_011522131.1:p.Gly188=
XM_011523830.1:c.564C>G XP_011522132.1:p.Gly188=
XR_934021.1:n.671C>G
XR_934022.1:n.671C>G
XR_934023.1:n.671C>G
XM_006721516.3:c.564C>G XP_006721579.2:p.Gly188=
XM_011523829.2:c.564C>G XP_011522131.1:p.Gly188=
XM_011523830.2:c.564C>G XP_011522132.1:p.Gly188=
XM_024450741.1:c.564C>G XP_024306509.1:p.Gly188=
XR_934021.2:n.623C>G
XR_934022.2:n.623C>G
XR_934023.2:n.623C>G
NM_000018.4:c.564C>G MANE Select NP_000009.1:p.Gly188=
NM_001033859.3:c.498C>G NP_001029031.1:p.Gly166=
NM_001270447.2:c.633C>G NP_001257376.1:p.Gly211=
NM_001270448.2:c.336C>G NP_001257377.1:p.Gly112=