Canonical Allele Identifier: CA287440787

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 3015017
• ClinVar RCV Id: RCV003878640
• dbSNP Id: rs528949080
• gnomAD v2: 17-7127951-T-C
• gnomAD v3: 17-7224632-T-C
• gnomAD v4: 17-7224632-T-C
• MyVariant Identifiers: chr17:g.7127951T>C (hg19) ; chr17:g.7224632T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224632T>C , CM000679.2:g.7224632T>C	GRCh38
NC_000017.10:g.7127951T>C , CM000679.1:g.7127951T>C	GRCh37
NC_000017.9:g.7068675T>C	NCBI36
NG_007975.1:g.9799T>C
NG_008391.2:g.419A>G
NG_033038.1:g.14913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-10T>C MANE Select	ENSP00000349297.5:n.1679-10T>C
ENST00000322910.9:c.*1634-10T>C	ENSP00000325395.5:n.*1634-10T>C
ENST00000350303.9:c.1613-10T>C	ENSP00000344152.5:n.1613-10T>C
ENST00000356839.9:c.1679-10T>C	ENSP00000349297.5:n.1679-10T>C
ENST00000542255.6:c.536+80T>C
ENST00000543245.6:c.1748-10T>C	ENSP00000438689.2:n.1748-10T>C
ENST00000578319.5:n.260-10T>C
ENST00000578711.1:n.1128T>C
ENST00000578809.5:n.251-10T>C
ENST00000579425.5:n.795-10T>C
ENST00000579546.1:c.414-10T>C
ENST00000582450.1:n.266T>C
ENST00000583074.5:n.299+80T>C
ENST00000583848.5:c.65-30T>C	ENSP00000466487.1:n.65-30T>C
ENST00000583850.5:n.450-10T>C
ENST00000583858.5:c.610-10T>C
ENST00000585203.6:n.870-10T>C
NM_000018.3:c.1679-10T>C	NP_000009.1:n.1679-10T>C
NM_001033859.2:c.1613-10T>C	NP_001029031.1:n.1613-10T>C
NM_001270447.1:c.1748-10T>C	NP_001257376.1:n.1748-10T>C
NM_001270448.1:c.1451-10T>C	NP_001257377.1:n.1451-10T>C
XM_006721516.2:c.1678+80T>C	XP_006721579.2:n.1678+80T>C
XM_011523829.1:c.1576+80T>C	XP_011522131.1:n.1576+80T>C
XM_011523830.1:c.1577-10T>C	XP_011522132.1:n.1577-10T>C
XR_934021.1:n.1782-10T>C
XR_934022.1:n.1688-10T>C
XR_934023.1:n.1687+80T>C
XM_006721516.3:c.1678+80T>C	XP_006721579.2:n.1678+80T>C
XM_011523829.2:c.1576+80T>C	XP_011522131.1:n.1576+80T>C
XM_011523830.2:c.1577-10T>C	XP_011522132.1:n.1577-10T>C
XM_024450741.1:c.1667-10T>C	XP_024306509.1:n.1667-10T>C
XR_934021.2:n.1734-10T>C
XR_934022.2:n.1640-10T>C
XR_934023.2:n.1639+80T>C
NM_000018.4:c.1679-10T>C MANE Select	NP_000009.1:n.1679-10T>C
NM_001033859.3:c.1613-10T>C	NP_001029031.1:n.1613-10T>C
NM_001270447.2:c.1748-10T>C	NP_001257376.1:n.1748-10T>C
NM_001270448.2:c.1451-10T>C	NP_001257377.1:n.1451-10T>C