Canonical Allele Identifier: CA2635784783

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224603-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224603A>C , CM000679.2:g.7224603A>C	GRCh38
NC_000017.10:g.7127922A>C , CM000679.1:g.7127922A>C	GRCh37
NC_000017.9:g.7068646A>C	NCBI36
NG_007975.1:g.9770A>C
NG_008391.2:g.448T>G
NG_033038.1:g.14942T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1679-39A>C MANE Select	ENSP00000349297.5:n.1679-39A>C
ENST00000322910.9:c.*1634-39A>C	ENSP00000325395.5:n.*1634-39A>C
ENST00000350303.9:c.1613-39A>C	ENSP00000344152.5:n.1613-39A>C
ENST00000356839.9:c.1679-39A>C	ENSP00000349297.5:n.1679-39A>C
ENST00000542255.6:c.536+51A>C
ENST00000543245.6:c.1748-39A>C	ENSP00000438689.2:n.1748-39A>C
ENST00000578319.5:n.260-39A>C
ENST00000578711.1:n.1099A>C
ENST00000578809.5:n.251-39A>C
ENST00000579391.1:n.333A>C
ENST00000579425.5:n.795-39A>C
ENST00000579546.1:c.414-39A>C
ENST00000582450.1:n.237A>C
ENST00000583074.5:n.299+51A>C
ENST00000583848.5:c.64+51A>C	ENSP00000466487.1:n.64+51A>C
ENST00000583850.5:n.450-39A>C
ENST00000583858.5:c.610-39A>C
ENST00000585203.6:n.870-39A>C
NM_000018.3:c.1679-39A>C	NP_000009.1:n.1679-39A>C
NM_001033859.2:c.1613-39A>C	NP_001029031.1:n.1613-39A>C
NM_001270447.1:c.1748-39A>C	NP_001257376.1:n.1748-39A>C
NM_001270448.1:c.1451-39A>C	NP_001257377.1:n.1451-39A>C
XM_006721516.2:c.1678+51A>C	XP_006721579.2:n.1678+51A>C
XM_011523829.1:c.1576+51A>C	XP_011522131.1:n.1576+51A>C
XM_011523830.1:c.1577-39A>C	XP_011522132.1:n.1577-39A>C
XR_934021.1:n.1782-39A>C
XR_934022.1:n.1688-39A>C
XR_934023.1:n.1687+51A>C
XM_006721516.3:c.1678+51A>C	XP_006721579.2:n.1678+51A>C
XM_011523829.2:c.1576+51A>C	XP_011522131.1:n.1576+51A>C
XM_011523830.2:c.1577-39A>C	XP_011522132.1:n.1577-39A>C
XM_024450741.1:c.1667-39A>C	XP_024306509.1:n.1667-39A>C
XR_934021.2:n.1734-39A>C
XR_934022.2:n.1640-39A>C
XR_934023.2:n.1639+51A>C
NM_000018.4:c.1679-39A>C MANE Select	NP_000009.1:n.1679-39A>C
NM_001033859.3:c.1613-39A>C	NP_001029031.1:n.1613-39A>C
NM_001270447.2:c.1748-39A>C	NP_001257376.1:n.1748-39A>C
NM_001270448.2:c.1451-39A>C	NP_001257377.1:n.1451-39A>C