Canonical Allele Identifier: CA2580094837

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2031232
• ClinVar RCV Id: RCV002867056

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224404A>T , CM000679.2:g.7224404A>T	GRCh38
NC_000017.10:g.7127723A>T , CM000679.1:g.7127723A>T	GRCh37
NC_000017.9:g.7068447A>T	NCBI36
NG_007975.1:g.9571A>T
NG_008391.2:g.647T>A
NG_033038.1:g.15141T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+11A>T MANE Select	ENSP00000349297.5:n.1605+11A>T
ENST00000322910.9:c.*1560+11A>T	ENSP00000325395.5:n.*1560+11A>T
ENST00000350303.9:c.1539+11A>T	ENSP00000344152.5:n.1539+11A>T
ENST00000356839.9:c.1605+11A>T	ENSP00000349297.5:n.1605+11A>T
ENST00000542255.6:c.463+11A>T
ENST00000543245.6:c.1674+11A>T	ENSP00000438689.2:n.1674+11A>T
ENST00000578319.5:n.111A>T
ENST00000578711.1:n.900A>T
ENST00000578809.5:n.177+11A>T
ENST00000579391.1:n.213+11A>T
ENST00000579425.5:n.721+11A>T
ENST00000579546.1:c.344+11A>T
ENST00000579894.5:n.392+11A>T
ENST00000582450.1:n.113+11A>T
ENST00000583074.5:n.226+11A>T
ENST00000583850.5:n.380+11A>T
ENST00000583858.5:c.536+11A>T
ENST00000585203.6:n.796+11A>T
NM_000018.3:c.1605+11A>T	NP_000009.1:n.1605+11A>T
NM_001033859.2:c.1539+11A>T	NP_001029031.1:n.1539+11A>T
NM_001270447.1:c.1674+11A>T	NP_001257376.1:n.1674+11A>T
NM_001270448.1:c.1377+11A>T	NP_001257377.1:n.1377+11A>T
XM_006721516.2:c.1605+11A>T	XP_006721579.2:n.1605+11A>T
XM_011523829.1:c.1507+11A>T	XP_011522131.1:n.1507+11A>T
XM_011523830.1:c.1507+11A>T	XP_011522132.1:n.1507+11A>T
XR_934021.1:n.1712+11A>T
XR_934022.1:n.1614+11A>T
XR_934023.1:n.1614+11A>T
XM_006721516.3:c.1605+11A>T	XP_006721579.2:n.1605+11A>T
XM_011523829.2:c.1507+11A>T	XP_011522131.1:n.1507+11A>T
XM_011523830.2:c.1507+11A>T	XP_011522132.1:n.1507+11A>T
XM_024450741.1:c.1518A>T	XP_024306509.1:p.Pro506=
XR_934021.2:n.1664+11A>T
XR_934022.2:n.1566+11A>T
XR_934023.2:n.1566+11A>T
NM_000018.4:c.1605+11A>T MANE Select	NP_000009.1:n.1605+11A>T
NM_001033859.3:c.1539+11A>T	NP_001029031.1:n.1539+11A>T
NM_001270447.2:c.1674+11A>T	NP_001257376.1:n.1674+11A>T
NM_001270448.2:c.1377+11A>T	NP_001257377.1:n.1377+11A>T