Canonical Allele Identifier: CA220209

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92284
• ClinVar RCV Id: RCV000077917
• dbSNP Id: rs398123089
• MyVariant Identifiers: chr17:g.7124336G>C (hg19) ; chr17:g.7221017G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221017G>C , CM000679.2:g.7221017G>C	GRCh38
NC_000017.10:g.7124336G>C , CM000679.1:g.7124336G>C	GRCh37
NC_000017.9:g.7065060G>C	NCBI36
NG_007975.1:g.6184G>C
NG_008391.2:g.4034C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.436G>C MANE Select	ENSP00000349297.5:p.Val146Leu
ENST00000322910.9:c.*391G>C	ENSP00000325395.5:n.*391G>C
ENST00000350303.9:c.370G>C	ENSP00000344152.5:p.Val124Leu
ENST00000356839.9:c.436G>C	ENSP00000349297.5:p.Val146Leu
ENST00000543245.6:c.505G>C	ENSP00000438689.2:p.Val169Leu
ENST00000577191.5:n.513G>C
ENST00000577433.5:n.644G>C
ENST00000577857.5:n.293+187G>C
ENST00000579286.5:n.617G>C
ENST00000579886.2:c.274G>C	ENSP00000463246.1:p.Val92Leu
ENST00000580365.1:n.167G>C
ENST00000581378.5:c.135G>C
ENST00000581562.5:n.483G>C
ENST00000582056.5:n.619G>C
ENST00000582166.1:n.417G>C
ENST00000583312.5:c.436G>C	ENSP00000467920.1:p.Val146Leu
ENST00000584103.5:c.469G>C	ENSP00000465353.1:p.Val157Leu
NM_000018.3:c.436G>C	NP_000009.1:p.Val146Leu
NM_001033859.2:c.370G>C	NP_001029031.1:p.Val124Leu
NM_001270447.1:c.505G>C	NP_001257376.1:p.Val169Leu
NM_001270448.1:c.208G>C	NP_001257377.1:p.Val70Leu
XM_006721516.2:c.436G>C	XP_006721579.2:p.Val146Leu
XM_011523829.1:c.436G>C	XP_011522131.1:p.Val146Leu
XM_011523830.1:c.436G>C	XP_011522132.1:p.Val146Leu
XR_934021.1:n.543G>C
XR_934022.1:n.543G>C
XR_934023.1:n.543G>C
XM_006721516.3:c.436G>C	XP_006721579.2:p.Val146Leu
XM_011523829.2:c.436G>C	XP_011522131.1:p.Val146Leu
XM_011523830.2:c.436G>C	XP_011522132.1:p.Val146Leu
XM_024450741.1:c.436G>C	XP_024306509.1:p.Val146Leu
XR_934021.2:n.495G>C
XR_934022.2:n.495G>C
XR_934023.2:n.495G>C
NM_000018.4:c.436G>C MANE Select	NP_000009.1:p.Val146Leu
NM_001033859.3:c.370G>C	NP_001029031.1:p.Val124Leu
NM_001270447.2:c.505G>C	NP_001257376.1:p.Val169Leu
NM_001270448.2:c.208G>C	NP_001257377.1:p.Val70Leu