Canonical Allele Identifier: CA2245715024

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071393409

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224639C>T , CM000679.2:g.7224639C>T	GRCh38
NC_000017.10:g.7127958C>T , CM000679.1:g.7127958C>T	GRCh37
NC_000017.9:g.7068682C>T	NCBI36
NG_007975.1:g.9806C>T
NG_008391.2:g.412G>A
NG_033038.1:g.14906G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1679-3C>T MANE Select	ENSP00000349297.5:n.1679-3C>T
ENST00000322910.9:c.*1634-3C>T	ENSP00000325395.5:n.*1634-3C>T
ENST00000350303.9:c.1613-3C>T	ENSP00000344152.5:n.1613-3C>T
ENST00000356839.9:c.1679-3C>T	ENSP00000349297.5:n.1679-3C>T
ENST00000542255.6:c.537-76C>T
ENST00000543245.6:c.1748-3C>T	ENSP00000438689.2:n.1748-3C>T
ENST00000578033.1:n.7C>T
ENST00000578319.5:n.260-3C>T
ENST00000578711.1:n.1135C>T
ENST00000578809.5:n.251-3C>T
ENST00000579425.5:n.795-3C>T
ENST00000579546.1:c.414-3C>T
ENST00000582450.1:n.273C>T
ENST00000583074.5:n.300-76C>T
ENST00000583848.5:c.65-23C>T	ENSP00000466487.1:n.65-23C>T
ENST00000583850.5:n.450-3C>T
ENST00000583858.5:c.610-3C>T
ENST00000585203.6:n.870-3C>T
NM_000018.3:c.1679-3C>T	NP_000009.1:n.1679-3C>T
NM_001033859.2:c.1613-3C>T	NP_001029031.1:n.1613-3C>T
NM_001270447.1:c.1748-3C>T	NP_001257376.1:n.1748-3C>T
NM_001270448.1:c.1451-3C>T	NP_001257377.1:n.1451-3C>T
XM_006721516.2:c.1679-76C>T	XP_006721579.2:n.1679-76C>T
XM_011523829.1:c.1577-76C>T	XP_011522131.1:n.1577-76C>T
XM_011523830.1:c.1577-3C>T	XP_011522132.1:n.1577-3C>T
XR_934021.1:n.1782-3C>T
XR_934022.1:n.1688-3C>T
XR_934023.1:n.1688-76C>T
XM_006721516.3:c.1679-76C>T	XP_006721579.2:n.1679-76C>T
XM_011523829.2:c.1577-76C>T	XP_011522131.1:n.1577-76C>T
XM_011523830.2:c.1577-3C>T	XP_011522132.1:n.1577-3C>T
XM_024450741.1:c.1667-3C>T	XP_024306509.1:n.1667-3C>T
XR_934021.2:n.1734-3C>T
XR_934022.2:n.1640-3C>T
XR_934023.2:n.1640-76C>T
NM_000018.4:c.1679-3C>T MANE Select	NP_000009.1:n.1679-3C>T
NM_001033859.3:c.1613-3C>T	NP_001029031.1:n.1613-3C>T
NM_001270447.2:c.1748-3C>T	NP_001257376.1:n.1748-3C>T
NM_001270448.2:c.1451-3C>T	NP_001257377.1:n.1451-3C>T