Canonical Allele Identifier: CA497694134

Gene: ACADVL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224015C>T , CM000679.2:g.7224015C>T	GRCh38
NC_000017.10:g.7127334C>T , CM000679.1:g.7127334C>T	GRCh37
NC_000017.9:g.7068058C>T	NCBI36
NG_007975.1:g.9182C>T
NG_008391.2:g.1036G>A
NG_033038.1:g.15530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1380C>T MANE Select	ENSP00000349297.5:p.Ile460=
ENST00000322910.9:c.*1335C>T	ENSP00000325395.5:n.*1335C>T
ENST00000350303.9:c.1314C>T	ENSP00000344152.5:p.Ile438=
ENST00000356839.9:c.1380C>T	ENSP00000349297.5:p.Ile460=
ENST00000542255.6:c.238C>T
ENST00000543245.6:c.1449C>T	ENSP00000438689.2:p.Ile483=
ENST00000578711.1:n.511C>T
ENST00000579425.5:n.496C>T
ENST00000579546.1:c.217C>T
ENST00000579894.5:n.91C>T
ENST00000583074.5:n.99C>T
ENST00000583850.5:n.155C>T
ENST00000583858.5:c.409C>T
ENST00000585203.6:n.571C>T
NM_000018.3:c.1380C>T	NP_000009.1:p.Ile460=
NM_001033859.2:c.1314C>T	NP_001029031.1:p.Ile438=
NM_001270447.1:c.1449C>T	NP_001257376.1:p.Ile483=
NM_001270448.1:c.1152C>T	NP_001257377.1:p.Ile384=
XM_006721516.2:c.1380C>T	XP_006721579.2:p.Ile460=
XM_011523829.1:c.1380C>T	XP_011522131.1:p.Ile460=
XM_011523830.1:c.1380C>T	XP_011522132.1:p.Ile460=
XR_934021.1:n.1487C>T
XR_934022.1:n.1487C>T
XR_934023.1:n.1487C>T
XM_006721516.3:c.1380C>T	XP_006721579.2:p.Ile460=
XM_011523829.2:c.1380C>T	XP_011522131.1:p.Ile460=
XM_011523830.2:c.1380C>T	XP_011522132.1:p.Ile460=
XM_024450741.1:c.1380C>T	XP_024306509.1:p.Ile460=
XR_934021.2:n.1439C>T
XR_934022.2:n.1439C>T
XR_934023.2:n.1439C>T
NM_000018.4:c.1380C>T MANE Select	NP_000009.1:p.Ile460=
NM_001033859.3:c.1314C>T	NP_001029031.1:p.Ile438=
NM_001270447.2:c.1449C>T	NP_001257376.1:p.Ile483=
NM_001270448.2:c.1152C>T	NP_001257377.1:p.Ile384=