Canonical Allele Identifier: CA8338210

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 555622
• ClinVar RCV Id: RCV000671478
• dbSNP Id: rs761650394
• ExAC: 17:7127893 C / T
• gnomAD v2: 17-7127893-C-T
• gnomAD v3: 17-7224574-C-T
• gnomAD v4: 17-7224574-C-T
• MyVariant Identifiers: chr17:g.7127893C>T (hg19) ; chr17:g.7224574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224574C>T , CM000679.2:g.7224574C>T	GRCh38
NC_000017.10:g.7127893C>T , CM000679.1:g.7127893C>T	GRCh37
NC_000017.9:g.7068617C>T	NCBI36
NG_007975.1:g.9741C>T
NG_008391.2:g.477G>A
NG_033038.1:g.14971G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+22C>T MANE Select	ENSP00000349297.5:n.1678+22C>T
ENST00000322910.9:c.*1633+22C>T	ENSP00000325395.5:n.*1633+22C>T
ENST00000350303.9:c.1612+22C>T	ENSP00000344152.5:n.1612+22C>T
ENST00000356839.9:c.1678+22C>T	ENSP00000349297.5:n.1678+22C>T
ENST00000542255.6:c.536+22C>T
ENST00000543245.6:c.1747+22C>T	ENSP00000438689.2:n.1747+22C>T
ENST00000578319.5:n.259+22C>T
ENST00000578711.1:n.1070C>T
ENST00000578809.5:n.250+22C>T
ENST00000579391.1:n.304C>T
ENST00000579425.5:n.794+22C>T
ENST00000579546.1:c.413+22C>T
ENST00000582450.1:n.208C>T
ENST00000583074.5:n.299+22C>T
ENST00000583848.5:c.64+22C>T	ENSP00000466487.1:n.64+22C>T
ENST00000583850.5:n.449+22C>T
ENST00000583858.5:c.609+22C>T
ENST00000585203.6:n.869+22C>T
NM_000018.3:c.1678+22C>T	NP_000009.1:n.1678+22C>T
NM_001033859.2:c.1612+22C>T	NP_001029031.1:n.1612+22C>T
NM_001270447.1:c.1747+22C>T	NP_001257376.1:n.1747+22C>T
NM_001270448.1:c.1450+22C>T	NP_001257377.1:n.1450+22C>T
XM_006721516.2:c.1678+22C>T	XP_006721579.2:n.1678+22C>T
XM_011523829.1:c.1576+22C>T	XP_011522131.1:n.1576+22C>T
XM_011523830.1:c.1576+22C>T	XP_011522132.1:n.1576+22C>T
XR_934021.1:n.1781+22C>T
XR_934022.1:n.1687+22C>T
XR_934023.1:n.1687+22C>T
XM_006721516.3:c.1678+22C>T	XP_006721579.2:n.1678+22C>T
XM_011523829.2:c.1576+22C>T	XP_011522131.1:n.1576+22C>T
XM_011523830.2:c.1576+22C>T	XP_011522132.1:n.1576+22C>T
XM_024450741.1:c.1666+22C>T	XP_024306509.1:n.1666+22C>T
XR_934021.2:n.1733+22C>T
XR_934022.2:n.1639+22C>T
XR_934023.2:n.1639+22C>T
NM_000018.4:c.1678+22C>T MANE Select	NP_000009.1:n.1678+22C>T
NM_001033859.3:c.1612+22C>T	NP_001029031.1:n.1612+22C>T
NM_001270447.2:c.1747+22C>T	NP_001257376.1:n.1747+22C>T
NM_001270448.2:c.1450+22C>T	NP_001257377.1:n.1450+22C>T