Canonical Allele Identifier: CA2635781201

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2706554
• ClinVar RCV Id: RCV003498882
• gnomAD v4: 17-7221527-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221527T>C , CM000679.2:g.7221527T>C	GRCh38
NC_000017.10:g.7124846T>C , CM000679.1:g.7124846T>C	GRCh37
NC_000017.9:g.7065570T>C	NCBI36
NG_007975.1:g.6694T>C
NG_008391.2:g.3524A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-11T>C MANE Select	ENSP00000349297.5:n.478-11T>C
ENST00000322910.9:c.*433-11T>C	ENSP00000325395.5:n.*433-11T>C
ENST00000350303.9:c.412-11T>C	ENSP00000344152.5:n.412-11T>C
ENST00000356839.9:c.478-11T>C	ENSP00000349297.5:n.478-11T>C
ENST00000543245.6:c.547-11T>C	ENSP00000438689.2:n.547-11T>C
ENST00000577191.5:n.555-11T>C
ENST00000577433.5:n.686-11T>C
ENST00000577857.5:n.294-11T>C
ENST00000579286.5:n.659-11T>C
ENST00000579886.2:c.316-11T>C	ENSP00000463246.1:n.316-11T>C
ENST00000580365.1:n.209-11T>C
ENST00000581378.5:c.185T>C
ENST00000581562.5:n.525-425T>C
ENST00000582166.1:n.459-11T>C
ENST00000583312.5:c.478-11T>C	ENSP00000467920.1:n.478-11T>C
ENST00000583760.1:n.249T>C
NM_000018.3:c.478-11T>C	NP_000009.1:n.478-11T>C
NM_001033859.2:c.412-11T>C	NP_001029031.1:n.412-11T>C
NM_001270447.1:c.547-11T>C	NP_001257376.1:n.547-11T>C
NM_001270448.1:c.250-11T>C	NP_001257377.1:n.250-11T>C
XM_006721516.2:c.478-11T>C	XP_006721579.2:n.478-11T>C
XM_011523829.1:c.478-11T>C	XP_011522131.1:n.478-11T>C
XM_011523830.1:c.478-11T>C	XP_011522132.1:n.478-11T>C
XR_934021.1:n.585-11T>C
XR_934022.1:n.585-11T>C
XR_934023.1:n.585-11T>C
XM_006721516.3:c.478-11T>C	XP_006721579.2:n.478-11T>C
XM_011523829.2:c.478-11T>C	XP_011522131.1:n.478-11T>C
XM_011523830.2:c.478-11T>C	XP_011522132.1:n.478-11T>C
XM_024450741.1:c.478-11T>C	XP_024306509.1:n.478-11T>C
XR_934021.2:n.537-11T>C
XR_934022.2:n.537-11T>C
XR_934023.2:n.537-11T>C
NM_000018.4:c.478-11T>C MANE Select	NP_000009.1:n.478-11T>C
NM_001033859.3:c.412-11T>C	NP_001029031.1:n.412-11T>C
NM_001270447.2:c.547-11T>C	NP_001257376.1:n.547-11T>C
NM_001270448.2:c.250-11T>C	NP_001257377.1:n.250-11T>C