Canonical Allele Identifier: CA497693797
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124967C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221648C>G , CM000679.2:g.7221648C>G GRCh38
NC_000017.10:g.7124967C>G , CM000679.1:g.7124967C>G GRCh37
NC_000017.9:g.7065691C>G NCBI36
NG_007975.1:g.6815C>G
NG_008391.2:g.3403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.588C>G MANE Select ENSP00000349297.5:p.Ala196=
ENST00000322910.9:c.*543C>G ENSP00000325395.5:n.*543C>G
ENST00000350303.9:c.522C>G ENSP00000344152.5:p.Ala174=
ENST00000356839.9:c.588C>G ENSP00000349297.5:p.Ala196=
ENST00000543245.6:c.657C>G ENSP00000438689.2:p.Ala219=
ENST00000577191.5:n.665C>G
ENST00000577433.5:n.796C>G
ENST00000577857.5:n.404C>G
ENST00000579286.5:n.769C>G
ENST00000579886.2:c.426C>G ENSP00000463246.1:p.Ala142=
ENST00000580365.1:n.319C>G
ENST00000581378.5:c.306C>G
ENST00000581562.5:n.525-304C>G
ENST00000583312.5:c.588C>G ENSP00000467920.1:p.Ala196=
ENST00000583760.1:n.370C>G
NM_000018.3:c.588C>G NP_000009.1:p.Ala196=
NM_001033859.2:c.522C>G NP_001029031.1:p.Ala174=
NM_001270447.1:c.657C>G NP_001257376.1:p.Ala219=
NM_001270448.1:c.360C>G NP_001257377.1:p.Ala120=
XM_006721516.2:c.588C>G XP_006721579.2:p.Ala196=
XM_011523829.1:c.588C>G XP_011522131.1:p.Ala196=
XM_011523830.1:c.588C>G XP_011522132.1:p.Ala196=
XR_934021.1:n.695C>G
XR_934022.1:n.695C>G
XR_934023.1:n.695C>G
XM_006721516.3:c.588C>G XP_006721579.2:p.Ala196=
XM_011523829.2:c.588C>G XP_011522131.1:p.Ala196=
XM_011523830.2:c.588C>G XP_011522132.1:p.Ala196=
XM_024450741.1:c.588C>G XP_024306509.1:p.Ala196=
XR_934021.2:n.647C>G
XR_934022.2:n.647C>G
XR_934023.2:n.647C>G
NM_000018.4:c.588C>G MANE Select NP_000009.1:p.Ala196=
NM_001033859.3:c.522C>G NP_001029031.1:p.Ala174=
NM_001270447.2:c.657C>G NP_001257376.1:p.Ala219=
NM_001270448.2:c.360C>G NP_001257377.1:p.Ala120=
Search 100 bp 5'
Search 100 bp 3'