Canonical Allele Identifier: CA8338219

Gene: ACADVL

Linked Data

• dbSNP Id: rs757687277
• ExAC: 17:7127923 A / C
• gnomAD v4: 17-7224604-A-C
• MyVariant Identifiers: chr17:g.7127923A>C (hg19) ; chr17:g.7224604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224604A>C , CM000679.2:g.7224604A>C	GRCh38
NC_000017.10:g.7127923A>C , CM000679.1:g.7127923A>C	GRCh37
NC_000017.9:g.7068647A>C	NCBI36
NG_007975.1:g.9771A>C
NG_008391.2:g.447T>G
NG_033038.1:g.14941T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-38A>C MANE Select	ENSP00000349297.5:n.1679-38A>C
ENST00000322910.9:c.*1634-38A>C	ENSP00000325395.5:n.*1634-38A>C
ENST00000350303.9:c.1613-38A>C	ENSP00000344152.5:n.1613-38A>C
ENST00000356839.9:c.1679-38A>C	ENSP00000349297.5:n.1679-38A>C
ENST00000542255.6:c.536+52A>C
ENST00000543245.6:c.1748-38A>C	ENSP00000438689.2:n.1748-38A>C
ENST00000578319.5:n.260-38A>C
ENST00000578711.1:n.1100A>C
ENST00000578809.5:n.251-38A>C
ENST00000579391.1:n.334A>C
ENST00000579425.5:n.795-38A>C
ENST00000579546.1:c.414-38A>C
ENST00000582450.1:n.238A>C
ENST00000583074.5:n.299+52A>C
ENST00000583848.5:c.64+52A>C	ENSP00000466487.1:n.64+52A>C
ENST00000583850.5:n.450-38A>C
ENST00000583858.5:c.610-38A>C
ENST00000585203.6:n.870-38A>C
NM_000018.3:c.1679-38A>C	NP_000009.1:n.1679-38A>C
NM_001033859.2:c.1613-38A>C	NP_001029031.1:n.1613-38A>C
NM_001270447.1:c.1748-38A>C	NP_001257376.1:n.1748-38A>C
NM_001270448.1:c.1451-38A>C	NP_001257377.1:n.1451-38A>C
XM_006721516.2:c.1678+52A>C	XP_006721579.2:n.1678+52A>C
XM_011523829.1:c.1576+52A>C	XP_011522131.1:n.1576+52A>C
XM_011523830.1:c.1577-38A>C	XP_011522132.1:n.1577-38A>C
XR_934021.1:n.1782-38A>C
XR_934022.1:n.1688-38A>C
XR_934023.1:n.1687+52A>C
XM_006721516.3:c.1678+52A>C	XP_006721579.2:n.1678+52A>C
XM_011523829.2:c.1576+52A>C	XP_011522131.1:n.1576+52A>C
XM_011523830.2:c.1577-38A>C	XP_011522132.1:n.1577-38A>C
XM_024450741.1:c.1667-38A>C	XP_024306509.1:n.1667-38A>C
XR_934021.2:n.1734-38A>C
XR_934022.2:n.1640-38A>C
XR_934023.2:n.1639+52A>C
NM_000018.4:c.1679-38A>C MANE Select	NP_000009.1:n.1679-38A>C
NM_001033859.3:c.1613-38A>C	NP_001029031.1:n.1613-38A>C
NM_001270447.2:c.1748-38A>C	NP_001257376.1:n.1748-38A>C
NM_001270448.2:c.1451-38A>C	NP_001257377.1:n.1451-38A>C