Canonical Allele Identifier: CA397725724
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2142989911

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224681T>C , CM000679.2:g.7224681T>C GRCh38
NC_000017.10:g.7128000T>C , CM000679.1:g.7128000T>C GRCh37
NC_000017.9:g.7068724T>C NCBI36
NG_007975.1:g.9848T>C
NG_008391.2:g.370A>G
NG_033038.1:g.14864A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1718T>C MANE Select ENSP00000349297.5:p.Ile573Thr
ENST00000322910.9:c.*1673T>C ENSP00000325395.5:n.*1673T>C
ENST00000350303.9:c.1652T>C ENSP00000344152.5:p.Ile551Thr
ENST00000356839.9:c.1718T>C ENSP00000349297.5:p.Ile573Thr
ENST00000542255.6:c.537-34T>C
ENST00000543245.6:c.1787T>C ENSP00000438689.2:p.Ile596Thr
ENST00000578033.1:n.49T>C
ENST00000578319.5:n.299T>C
ENST00000578711.1:n.1177T>C
ENST00000578809.5:n.290T>C
ENST00000579425.5:n.834T>C
ENST00000579546.1:c.453T>C
ENST00000583074.5:n.300-34T>C
ENST00000583848.5:c.84T>C ENSP00000466487.1:p.His28=
ENST00000583850.5:n.489T>C
ENST00000583858.5:c.649T>C
ENST00000585203.6:n.909T>C
NM_000018.3:c.1718T>C NP_000009.1:p.Ile573Thr
NM_001033859.2:c.1652T>C NP_001029031.1:p.Ile551Thr
NM_001270447.1:c.1787T>C NP_001257376.1:p.Ile596Thr
NM_001270448.1:c.1490T>C NP_001257377.1:p.Ile497Thr
XM_006721516.2:c.1679-34T>C XP_006721579.2:n.1679-34T>C
XM_011523829.1:c.1577-34T>C XP_011522131.1:n.1577-34T>C
XM_011523830.1:c.1616T>C XP_011522132.1:p.Ile539Thr
XR_934021.1:n.1821T>C
XR_934022.1:n.1727T>C
XR_934023.1:n.1688-34T>C
XM_006721516.3:c.1679-34T>C XP_006721579.2:n.1679-34T>C
XM_011523829.2:c.1577-34T>C XP_011522131.1:n.1577-34T>C
XM_011523830.2:c.1616T>C XP_011522132.1:p.Ile539Thr
XM_024450741.1:c.1706T>C XP_024306509.1:p.Ile569Thr
XR_934021.2:n.1773T>C
XR_934022.2:n.1679T>C
XR_934023.2:n.1640-34T>C
NM_000018.4:c.1718T>C MANE Select NP_000009.1:p.Ile573Thr
NM_001033859.3:c.1652T>C NP_001029031.1:p.Ile551Thr
NM_001270447.2:c.1787T>C NP_001257376.1:p.Ile596Thr
NM_001270448.2:c.1490T>C NP_001257377.1:p.Ile497Thr