Canonical Allele Identifier: CA624860714

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1574071
• ClinVar RCV Id: RCV002073511
• dbSNP Id: rs548935465
• gnomAD v2: 17-7127450-C-T
• gnomAD v3: 17-7224131-C-T
• gnomAD v4: 17-7224131-C-T
• MyVariant Identifiers: chr17:g.7127450C>T (hg19) ; chr17:g.7224131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224131C>T , CM000679.2:g.7224131C>T	GRCh38
NC_000017.10:g.7127450C>T , CM000679.1:g.7127450C>T	GRCh37
NC_000017.9:g.7068174C>T	NCBI36
NG_007975.1:g.9298C>T
NG_008391.2:g.920G>A
NG_033038.1:g.15414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1435-15C>T MANE Select	ENSP00000349297.5:n.1435-15C>T
ENST00000322910.9:c.*1390-15C>T	ENSP00000325395.5:n.*1390-15C>T
ENST00000350303.9:c.1369-15C>T	ENSP00000344152.5:n.1369-15C>T
ENST00000356839.9:c.1435-15C>T	ENSP00000349297.5:n.1435-15C>T
ENST00000542255.6:c.293-15C>T
ENST00000543245.6:c.1504-15C>T	ENSP00000438689.2:n.1504-15C>T
ENST00000578711.1:n.627C>T
ENST00000579391.1:n.28C>T
ENST00000579425.5:n.551-15C>T
ENST00000579546.1:c.271+62C>T
ENST00000579894.5:n.207C>T
ENST00000583074.5:n.153+62C>T
ENST00000583850.5:n.210-15C>T
ENST00000583858.5:c.463+62C>T
ENST00000585203.6:n.626-15C>T
NM_000018.3:c.1435-15C>T	NP_000009.1:n.1435-15C>T
NM_001033859.2:c.1369-15C>T	NP_001029031.1:n.1369-15C>T
NM_001270447.1:c.1504-15C>T	NP_001257376.1:n.1504-15C>T
NM_001270448.1:c.1207-15C>T	NP_001257377.1:n.1207-15C>T
XM_006721516.2:c.1435-15C>T	XP_006721579.2:n.1435-15C>T
XM_011523829.1:c.1434+62C>T	XP_011522131.1:n.1434+62C>T
XM_011523830.1:c.1434+62C>T	XP_011522132.1:n.1434+62C>T
XR_934021.1:n.1542-15C>T
XR_934022.1:n.1541+62C>T
XR_934023.1:n.1541+62C>T
XM_006721516.3:c.1435-15C>T	XP_006721579.2:n.1435-15C>T
XM_011523829.2:c.1434+62C>T	XP_011522131.1:n.1434+62C>T
XM_011523830.2:c.1434+62C>T	XP_011522132.1:n.1434+62C>T
XM_024450741.1:c.1434+62C>T	XP_024306509.1:n.1434+62C>T
XR_934021.2:n.1494-15C>T
XR_934022.2:n.1493+62C>T
XR_934023.2:n.1493+62C>T
NM_000018.4:c.1435-15C>T MANE Select	NP_000009.1:n.1435-15C>T
NM_001033859.3:c.1369-15C>T	NP_001029031.1:n.1369-15C>T
NM_001270447.2:c.1504-15C>T	NP_001257376.1:n.1504-15C>T
NM_001270448.2:c.1207-15C>T	NP_001257377.1:n.1207-15C>T