Canonical Allele Identifier: CA2245714785

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2444071
• ClinVar RCV Id: RCV003152869
• dbSNP Id: rs2071388833
• gnomAD v4: 17-7224602-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224602T>G , CM000679.2:g.7224602T>G	GRCh38
NC_000017.10:g.7127921T>G , CM000679.1:g.7127921T>G	GRCh37
NC_000017.9:g.7068645T>G	NCBI36
NG_007975.1:g.9769T>G
NG_008391.2:g.449A>C
NG_033038.1:g.14943A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1679-40T>G MANE Select	ENSP00000349297.5:n.1679-40T>G
ENST00000322910.9:c.*1634-40T>G	ENSP00000325395.5:n.*1634-40T>G
ENST00000350303.9:c.1613-40T>G	ENSP00000344152.5:n.1613-40T>G
ENST00000356839.9:c.1679-40T>G	ENSP00000349297.5:n.1679-40T>G
ENST00000542255.6:c.536+50T>G
ENST00000543245.6:c.1748-40T>G	ENSP00000438689.2:n.1748-40T>G
ENST00000578319.5:n.260-40T>G
ENST00000578711.1:n.1098T>G
ENST00000578809.5:n.251-40T>G
ENST00000579391.1:n.332T>G
ENST00000579425.5:n.795-40T>G
ENST00000579546.1:c.414-40T>G
ENST00000582450.1:n.236T>G
ENST00000583074.5:n.299+50T>G
ENST00000583848.5:c.64+50T>G	ENSP00000466487.1:n.64+50T>G
ENST00000583850.5:n.450-40T>G
ENST00000583858.5:c.610-40T>G
ENST00000585203.6:n.870-40T>G
NM_000018.3:c.1679-40T>G	NP_000009.1:n.1679-40T>G
NM_001033859.2:c.1613-40T>G	NP_001029031.1:n.1613-40T>G
NM_001270447.1:c.1748-40T>G	NP_001257376.1:n.1748-40T>G
NM_001270448.1:c.1451-40T>G	NP_001257377.1:n.1451-40T>G
XM_006721516.2:c.1678+50T>G	XP_006721579.2:n.1678+50T>G
XM_011523829.1:c.1576+50T>G	XP_011522131.1:n.1576+50T>G
XM_011523830.1:c.1577-40T>G	XP_011522132.1:n.1577-40T>G
XR_934021.1:n.1782-40T>G
XR_934022.1:n.1688-40T>G
XR_934023.1:n.1687+50T>G
XM_006721516.3:c.1678+50T>G	XP_006721579.2:n.1678+50T>G
XM_011523829.2:c.1576+50T>G	XP_011522131.1:n.1576+50T>G
XM_011523830.2:c.1577-40T>G	XP_011522132.1:n.1577-40T>G
XM_024450741.1:c.1667-40T>G	XP_024306509.1:n.1667-40T>G
XR_934021.2:n.1734-40T>G
XR_934022.2:n.1640-40T>G
XR_934023.2:n.1639+50T>G
NM_000018.4:c.1679-40T>G MANE Select	NP_000009.1:n.1679-40T>G
NM_001033859.3:c.1613-40T>G	NP_001029031.1:n.1613-40T>G
NM_001270447.2:c.1748-40T>G	NP_001257376.1:n.1748-40T>G
NM_001270448.2:c.1451-40T>G	NP_001257377.1:n.1451-40T>G