Canonical Allele Identifier: CA497620199
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126046T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222727T>C , CM000679.2:g.7222727T>C GRCh38
NC_000017.10:g.7126046T>C , CM000679.1:g.7126046T>C GRCh37
NC_000017.9:g.7066770T>C NCBI36
NG_007975.1:g.7894T>C
NG_008391.2:g.2324A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.939T>C MANE Select ENSP00000349297.5:p.Asp313=
ENST00000322910.9:c.*894T>C ENSP00000325395.5:n.*894T>C
ENST00000350303.9:c.873T>C ENSP00000344152.5:p.Asp291=
ENST00000356839.9:c.939T>C ENSP00000349297.5:p.Asp313=
ENST00000543245.6:c.1008T>C ENSP00000438689.2:p.Asp336=
ENST00000578824.5:n.88T>C
ENST00000581378.5:c.657T>C
ENST00000582379.1:n.323T>C
NM_000018.3:c.939T>C NP_000009.1:p.Asp313=
NM_001033859.2:c.873T>C NP_001029031.1:p.Asp291=
NM_001270447.1:c.1008T>C NP_001257376.1:p.Asp336=
NM_001270448.1:c.711T>C NP_001257377.1:p.Asp237=
XM_006721516.2:c.939T>C XP_006721579.2:p.Asp313=
XM_011523829.1:c.939T>C XP_011522131.1:p.Asp313=
XM_011523830.1:c.939T>C XP_011522132.1:p.Asp313=
XR_934021.1:n.1046T>C
XR_934022.1:n.1046T>C
XR_934023.1:n.1046T>C
XM_006721516.3:c.939T>C XP_006721579.2:p.Asp313=
XM_011523829.2:c.939T>C XP_011522131.1:p.Asp313=
XM_011523830.2:c.939T>C XP_011522132.1:p.Asp313=
XM_024450741.1:c.939T>C XP_024306509.1:p.Asp313=
XR_934021.2:n.998T>C
XR_934022.2:n.998T>C
XR_934023.2:n.998T>C
NM_000018.4:c.939T>C MANE Select NP_000009.1:p.Asp313=
NM_001033859.3:c.873T>C NP_001029031.1:p.Asp291=
NM_001270447.2:c.1008T>C NP_001257376.1:p.Asp336=
NM_001270448.2:c.711T>C NP_001257377.1:p.Asp237=
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