Canonical Allele Identifier: CA497694057
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125392T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222073T>G , CM000679.2:g.7222073T>G GRCh38
NC_000017.10:g.7125392T>G , CM000679.1:g.7125392T>G GRCh37
NC_000017.9:g.7066116T>G NCBI36
NG_007975.1:g.7240T>G
NG_008391.2:g.2978A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.744T>G MANE Select ENSP00000349297.5:p.Leu248=
ENST00000322910.9:c.*699T>G ENSP00000325395.5:n.*699T>G
ENST00000350303.9:c.678T>G ENSP00000344152.5:p.Leu226=
ENST00000356839.9:c.744T>G ENSP00000349297.5:p.Leu248=
ENST00000543245.6:c.813T>G ENSP00000438689.2:p.Leu271=
ENST00000577191.5:n.821T>G
ENST00000577857.5:n.560T>G
ENST00000579286.5:n.925T>G
ENST00000580365.1:n.475T>G
ENST00000581378.5:c.462T>G
ENST00000582379.1:n.128T>G
ENST00000583760.1:n.526T>G
NM_000018.3:c.744T>G NP_000009.1:p.Leu248=
NM_001033859.2:c.678T>G NP_001029031.1:p.Leu226=
NM_001270447.1:c.813T>G NP_001257376.1:p.Leu271=
NM_001270448.1:c.516T>G NP_001257377.1:p.Leu172=
XM_006721516.2:c.744T>G XP_006721579.2:p.Leu248=
XM_011523829.1:c.744T>G XP_011522131.1:p.Leu248=
XM_011523830.1:c.744T>G XP_011522132.1:p.Leu248=
XR_934021.1:n.851T>G
XR_934022.1:n.851T>G
XR_934023.1:n.851T>G
XM_006721516.3:c.744T>G XP_006721579.2:p.Leu248=
XM_011523829.2:c.744T>G XP_011522131.1:p.Leu248=
XM_011523830.2:c.744T>G XP_011522132.1:p.Leu248=
XM_024450741.1:c.744T>G XP_024306509.1:p.Leu248=
XR_934021.2:n.803T>G
XR_934022.2:n.803T>G
XR_934023.2:n.803T>G
NM_000018.4:c.744T>G MANE Select NP_000009.1:p.Leu248=
NM_001033859.3:c.678T>G NP_001029031.1:p.Leu226=
NM_001270447.2:c.813T>G NP_001257376.1:p.Leu271=
NM_001270448.2:c.516T>G NP_001257377.1:p.Leu172=
Search 100 bp 5'
Search 100 bp 3'