Canonical Allele Identifier: CA397723699
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125534A>T (hg19) chr17:g.7222215A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222215A>T , CM000679.2:g.7222215A>T GRCh38
NC_000017.10:g.7125534A>T , CM000679.1:g.7125534A>T GRCh37
NC_000017.9:g.7066258A>T NCBI36
NG_007975.1:g.7382A>T
NG_008391.2:g.2836T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.791A>T MANE Select ENSP00000349297.5:p.Lys264Met
ENST00000322910.9:c.*746A>T ENSP00000325395.5:n.*746A>T
ENST00000350303.9:c.725A>T ENSP00000344152.5:p.Lys242Met
ENST00000356839.9:c.791A>T ENSP00000349297.5:p.Lys264Met
ENST00000543245.6:c.860A>T ENSP00000438689.2:p.Lys287Met
ENST00000577191.5:n.963A>T
ENST00000581378.5:c.509A>T
ENST00000582379.1:n.175A>T
NM_000018.3:c.791A>T NP_000009.1:p.Lys264Met
NM_001033859.2:c.725A>T NP_001029031.1:p.Lys242Met
NM_001270447.1:c.860A>T NP_001257376.1:p.Lys287Met
NM_001270448.1:c.563A>T NP_001257377.1:p.Lys188Met
XM_006721516.2:c.791A>T XP_006721579.2:p.Lys264Met
XM_011523829.1:c.791A>T XP_011522131.1:p.Lys264Met
XM_011523830.1:c.791A>T XP_011522132.1:p.Lys264Met
XR_934021.1:n.898A>T
XR_934022.1:n.898A>T
XR_934023.1:n.898A>T
XM_006721516.3:c.791A>T XP_006721579.2:p.Lys264Met
XM_011523829.2:c.791A>T XP_011522131.1:p.Lys264Met
XM_011523830.2:c.791A>T XP_011522132.1:p.Lys264Met
XM_024450741.1:c.791A>T XP_024306509.1:p.Lys264Met
XR_934021.2:n.850A>T
XR_934022.2:n.850A>T
XR_934023.2:n.850A>T
NM_000018.4:c.791A>T MANE Select NP_000009.1:p.Lys264Met
NM_001033859.3:c.725A>T NP_001029031.1:p.Lys242Met
NM_001270447.2:c.860A>T NP_001257376.1:p.Lys287Met
NM_001270448.2:c.563A>T NP_001257377.1:p.Lys188Met
Search 100 bp 5'
Search 100 bp 3'