Canonical Allele Identifier: CA8338231

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1125549
• ClinVar RCV Id: RCV001457296
• dbSNP Id: rs776276526
• ExAC: 17:7127954 C / T
• gnomAD v2: 17-7127954-C-T
• gnomAD v3: 17-7224635-C-T
• gnomAD v4: 17-7224635-C-T
• MyVariant Identifiers: chr17:g.7127954C>T (hg19) ; chr17:g.7127954_7127955delinsTG (hg19) ; chr17:g.7224635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224635C>T , CM000679.2:g.7224635C>T	GRCh38
NC_000017.10:g.7127954C>T , CM000679.1:g.7127954C>T	GRCh37
NC_000017.9:g.7068678C>T	NCBI36
NG_007975.1:g.9802C>T
NG_008391.2:g.416G>A
NG_033038.1:g.14910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-7C>T MANE Select	ENSP00000349297.5:n.1679-7C>T
ENST00000322910.9:c.*1634-7C>T	ENSP00000325395.5:n.*1634-7C>T
ENST00000350303.9:c.1613-7C>T	ENSP00000344152.5:n.1613-7C>T
ENST00000356839.9:c.1679-7C>T	ENSP00000349297.5:n.1679-7C>T
ENST00000542255.6:c.537-80C>T
ENST00000543245.6:c.1748-7C>T	ENSP00000438689.2:n.1748-7C>T
ENST00000578033.1:n.3C>T
ENST00000578319.5:n.260-7C>T
ENST00000578711.1:n.1131C>T
ENST00000578809.5:n.251-7C>T
ENST00000579425.5:n.795-7C>T
ENST00000579546.1:c.414-7C>T
ENST00000582450.1:n.269C>T
ENST00000583074.5:n.300-80C>T
ENST00000583848.5:c.65-27C>T	ENSP00000466487.1:n.65-27C>T
ENST00000583850.5:n.450-7C>T
ENST00000583858.5:c.610-7C>T
ENST00000585203.6:n.870-7C>T
NM_000018.3:c.1679-7C>T	NP_000009.1:n.1679-7C>T
NM_001033859.2:c.1613-7C>T	NP_001029031.1:n.1613-7C>T
NM_001270447.1:c.1748-7C>T	NP_001257376.1:n.1748-7C>T
NM_001270448.1:c.1451-7C>T	NP_001257377.1:n.1451-7C>T
XM_006721516.2:c.1679-80C>T	XP_006721579.2:n.1679-80C>T
XM_011523829.1:c.1577-80C>T	XP_011522131.1:n.1577-80C>T
XM_011523830.1:c.1577-7C>T	XP_011522132.1:n.1577-7C>T
XR_934021.1:n.1782-7C>T
XR_934022.1:n.1688-7C>T
XR_934023.1:n.1688-80C>T
XM_006721516.3:c.1679-80C>T	XP_006721579.2:n.1679-80C>T
XM_011523829.2:c.1577-80C>T	XP_011522131.1:n.1577-80C>T
XM_011523830.2:c.1577-7C>T	XP_011522132.1:n.1577-7C>T
XM_024450741.1:c.1667-7C>T	XP_024306509.1:n.1667-7C>T
XR_934021.2:n.1734-7C>T
XR_934022.2:n.1640-7C>T
XR_934023.2:n.1640-80C>T
NM_000018.4:c.1679-7C>T MANE Select	NP_000009.1:n.1679-7C>T
NM_001033859.3:c.1613-7C>T	NP_001029031.1:n.1613-7C>T
NM_001270447.2:c.1748-7C>T	NP_001257376.1:n.1748-7C>T
NM_001270448.2:c.1451-7C>T	NP_001257377.1:n.1451-7C>T