Canonical Allele Identifier: CA2635786638

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224737-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224737C>T , CM000679.2:g.7224737C>T	GRCh38
NC_000017.10:g.7128056C>T , CM000679.1:g.7128056C>T	GRCh37
NC_000017.9:g.7068780C>T	NCBI36
NG_007975.1:g.9904C>T
NG_008391.2:g.314G>A
NG_033038.1:g.14808G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+23C>T MANE Select	ENSP00000349297.5:n.1751+23C>T
ENST00000322910.9:c.*1706+23C>T	ENSP00000325395.5:n.*1706+23C>T
ENST00000350303.9:c.1685+23C>T	ENSP00000344152.5:n.1685+23C>T
ENST00000356839.9:c.1751+23C>T	ENSP00000349297.5:n.1751+23C>T
ENST00000542255.6:c.559C>T
ENST00000543245.6:c.1820+23C>T	ENSP00000438689.2:n.1820+23C>T
ENST00000578033.1:n.105C>T
ENST00000578319.5:n.332+23C>T
ENST00000578711.1:n.1233C>T
ENST00000578809.5:n.323+23C>T
ENST00000579425.5:n.867+23C>T
ENST00000579546.1:c.486+23C>T
ENST00000583074.5:n.322C>T
ENST00000583848.5:c.117+23C>T	ENSP00000466487.1:n.117+23C>T
ENST00000583850.5:n.522+23C>T
ENST00000583858.5:c.682+23C>T
ENST00000585203.6:n.942+23C>T
NM_000018.3:c.1751+23C>T	NP_000009.1:n.1751+23C>T
NM_001033859.2:c.1685+23C>T	NP_001029031.1:n.1685+23C>T
NM_001270447.1:c.1820+23C>T	NP_001257376.1:n.1820+23C>T
NM_001270448.1:c.1523+23C>T	NP_001257377.1:n.1523+23C>T
XM_006721516.2:c.1701C>T	XP_006721579.2:p.Cys567=
XM_011523829.1:c.1599C>T	XP_011522131.1:p.Cys533=
XM_011523830.1:c.1649+23C>T	XP_011522132.1:n.1649+23C>T
XR_934021.1:n.1854+23C>T
XR_934022.1:n.1760+23C>T
XR_934023.1:n.1710C>T
XM_006721516.3:c.1701C>T	XP_006721579.2:p.Cys567=
XM_011523829.2:c.1599C>T	XP_011522131.1:p.Cys533=
XM_011523830.2:c.1649+23C>T	XP_011522132.1:n.1649+23C>T
XM_024450741.1:c.1739+23C>T	XP_024306509.1:n.1739+23C>T
XR_934021.2:n.1806+23C>T
XR_934022.2:n.1712+23C>T
XR_934023.2:n.1662C>T
NM_000018.4:c.1751+23C>T MANE Select	NP_000009.1:n.1751+23C>T
NM_001033859.3:c.1685+23C>T	NP_001029031.1:n.1685+23C>T
NM_001270447.2:c.1820+23C>T	NP_001257376.1:n.1820+23C>T
NM_001270448.2:c.1523+23C>T	NP_001257377.1:n.1523+23C>T