Canonical Allele Identifier: CA2635786709
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224775-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224775C>A , CM000679.2:g.7224775C>A GRCh38
NC_000017.10:g.7128094C>A , CM000679.1:g.7128094C>A GRCh37
NC_000017.9:g.7068818C>A NCBI36
NG_007975.1:g.9942C>A
NG_008391.2:g.276G>T
NG_033038.1:g.14770G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1752-34C>A MANE Select ENSP00000349297.5:n.1752-34C>A
ENST00000322910.9:c.*1707-34C>A ENSP00000325395.5:n.*1707-34C>A
ENST00000350303.9:c.1686-34C>A ENSP00000344152.5:n.1686-34C>A
ENST00000356839.9:c.1752-34C>A ENSP00000349297.5:n.1752-34C>A
ENST00000542255.6:c.597C>A
ENST00000543245.6:c.1821-34C>A ENSP00000438689.2:n.1821-34C>A
ENST00000578033.1:n.143C>A
ENST00000578319.5:n.333-34C>A
ENST00000578711.1:n.1271C>A
ENST00000578809.5:n.324-34C>A
ENST00000579425.5:n.868-34C>A
ENST00000579546.1:c.487-34C>A
ENST00000583074.5:n.360C>A
ENST00000583848.5:c.118-34C>A ENSP00000466487.1:n.118-34C>A
ENST00000583850.5:n.523-34C>A
ENST00000583858.5:c.683-34C>A
ENST00000585203.6:n.943-34C>A
NM_000018.3:c.1752-34C>A NP_000009.1:n.1752-34C>A
NM_001033859.2:c.1686-34C>A NP_001029031.1:n.1686-34C>A
NM_001270447.1:c.1821-34C>A NP_001257376.1:n.1821-34C>A
NM_001270448.1:c.1524-34C>A NP_001257377.1:n.1524-34C>A
XM_006721516.2:c.1739C>A XP_006721579.2:p.Ala580Asp
XM_011523829.1:c.1637C>A XP_011522131.1:p.Ala546Asp
XM_011523830.1:c.1650-34C>A XP_011522132.1:n.1650-34C>A
XR_934021.1:n.1855-34C>A
XR_934022.1:n.1761-34C>A
XR_934023.1:n.1748C>A
XM_006721516.3:c.1739C>A XP_006721579.2:p.Ala580Asp
XM_011523829.2:c.1637C>A XP_011522131.1:p.Ala546Asp
XM_011523830.2:c.1650-34C>A XP_011522132.1:n.1650-34C>A
XM_024450741.1:c.1740-34C>A XP_024306509.1:n.1740-34C>A
XR_934021.2:n.1807-34C>A
XR_934022.2:n.1713-34C>A
XR_934023.2:n.1700C>A
NM_000018.4:c.1752-34C>A MANE Select NP_000009.1:n.1752-34C>A
NM_001033859.3:c.1686-34C>A NP_001029031.1:n.1686-34C>A
NM_001270447.2:c.1821-34C>A NP_001257376.1:n.1821-34C>A
NM_001270448.2:c.1524-34C>A NP_001257377.1:n.1524-34C>A