Canonical Allele Identifier: CA497694581
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7128374G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225055G>T , CM000679.2:g.7225055G>T GRCh38
NC_000017.10:g.7128374G>T , CM000679.1:g.7128374G>T GRCh37
NC_000017.9:g.7069098G>T NCBI36
NG_007975.1:g.10222G>T
NG_033038.1:g.14490C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1926G>T MANE Select ENSP00000349297.5:p.Val642=
ENST00000322910.9:c.*1881G>T ENSP00000325395.5:n.*1881G>T
ENST00000350303.9:c.1860G>T ENSP00000344152.5:p.Val620=
ENST00000356839.9:c.1926G>T ENSP00000349297.5:p.Val642=
ENST00000542255.6:c.805G>T
ENST00000543245.6:c.1995G>T ENSP00000438689.2:p.Val665=
ENST00000578033.1:n.351G>T
ENST00000578319.5:n.507G>T
ENST00000578711.1:n.1551G>T
ENST00000578809.5:n.498G>T
ENST00000579425.5:n.1042G>T
ENST00000583848.5:c.292G>T ENSP00000466487.1:n.292G>T
ENST00000583850.5:n.697G>T
ENST00000583858.5:c.857G>T
NM_000018.3:c.1926G>T NP_000009.1:p.Val642=
NM_001033859.2:c.1860G>T NP_001029031.1:p.Val620=
NM_001270447.1:c.1995G>T NP_001257376.1:p.Val665=
NM_001270448.1:c.1698G>T NP_001257377.1:p.Val566=
XM_006721516.2:c.1947G>T XP_006721579.2:p.Val649=
XM_011523829.1:c.1845G>T XP_011522131.1:p.Val615=
XM_011523830.1:c.1824G>T XP_011522132.1:p.Val608=
XR_934021.1:n.2029G>T
XR_934022.1:n.1935G>T
XR_934023.1:n.1956G>T
XM_006721516.3:c.1947G>T XP_006721579.2:p.Val649=
XM_011523829.2:c.1845G>T XP_011522131.1:p.Val615=
XM_011523830.2:c.1824G>T XP_011522132.1:p.Val608=
XM_024450741.1:c.1914G>T XP_024306509.1:p.Val638=
XR_934021.2:n.1981G>T
XR_934022.2:n.1887G>T
XR_934023.2:n.1908G>T
NM_000018.4:c.1926G>T MANE Select NP_000009.1:p.Val642=
NM_001033859.3:c.1860G>T NP_001029031.1:p.Val620=
NM_001270447.2:c.1995G>T NP_001257376.1:p.Val665=
NM_001270448.2:c.1698G>T NP_001257377.1:p.Val566=