Canonical Allele Identifier: CA497694074
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127298A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223979A>T , CM000679.2:g.7223979A>T GRCh38
NC_000017.10:g.7127298A>T , CM000679.1:g.7127298A>T GRCh37
NC_000017.9:g.7068022A>T NCBI36
NG_007975.1:g.9146A>T
NG_008391.2:g.1072T>A
NG_033038.1:g.15566T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1344A>T MANE Select ENSP00000349297.5:p.Val448=
ENST00000322910.9:c.*1299A>T ENSP00000325395.5:n.*1299A>T
ENST00000350303.9:c.1278A>T ENSP00000344152.5:p.Val426=
ENST00000356839.9:c.1344A>T ENSP00000349297.5:p.Val448=
ENST00000542255.6:c.202A>T
ENST00000543245.6:c.1413A>T ENSP00000438689.2:p.Val471=
ENST00000578711.1:n.475A>T
ENST00000579425.5:n.460A>T
ENST00000579546.1:c.181A>T
ENST00000579894.5:n.55A>T
ENST00000583074.5:n.63A>T
ENST00000583850.5:n.119A>T
ENST00000583858.5:c.373A>T
ENST00000585203.6:n.535A>T
NM_000018.3:c.1344A>T NP_000009.1:p.Val448=
NM_001033859.2:c.1278A>T NP_001029031.1:p.Val426=
NM_001270447.1:c.1413A>T NP_001257376.1:p.Val471=
NM_001270448.1:c.1116A>T NP_001257377.1:p.Val372=
XM_006721516.2:c.1344A>T XP_006721579.2:p.Val448=
XM_011523829.1:c.1344A>T XP_011522131.1:p.Val448=
XM_011523830.1:c.1344A>T XP_011522132.1:p.Val448=
XR_934021.1:n.1451A>T
XR_934022.1:n.1451A>T
XR_934023.1:n.1451A>T
XM_006721516.3:c.1344A>T XP_006721579.2:p.Val448=
XM_011523829.2:c.1344A>T XP_011522131.1:p.Val448=
XM_011523830.2:c.1344A>T XP_011522132.1:p.Val448=
XM_024450741.1:c.1344A>T XP_024306509.1:p.Val448=
XR_934021.2:n.1403A>T
XR_934022.2:n.1403A>T
XR_934023.2:n.1403A>T
NM_000018.4:c.1344A>T MANE Select NP_000009.1:p.Val448=
NM_001033859.3:c.1278A>T NP_001029031.1:p.Val426=
NM_001270447.2:c.1413A>T NP_001257376.1:p.Val471=
NM_001270448.2:c.1116A>T NP_001257377.1:p.Val372=
Search 100 bp 5'
Search 100 bp 3'