Canonical Allele Identifier: CA8337645

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1440663
• ClinVar RCV Id: RCV001950466
• dbSNP Id: rs759197049
• ExAC: 17:7124108 T / C
• gnomAD v2: 17-7124108-T-C
• gnomAD v3: 17-7220789-T-C
• gnomAD v4: 17-7220789-T-C
• MyVariant Identifiers: chr17:g.7124108T>C (hg19) ; chr17:g.7220789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220789T>C , CM000679.2:g.7220789T>C	GRCh38
NC_000017.10:g.7124108T>C , CM000679.1:g.7124108T>C	GRCh37
NC_000017.9:g.7064832T>C	NCBI36
NG_007975.1:g.5956T>C
NG_008391.2:g.4262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.301T>C MANE Select	ENSP00000349297.5:p.Phe101Leu
ENST00000322910.9:c.*256T>C	ENSP00000325395.5:n.*256T>C
ENST00000350303.9:c.235T>C	ENSP00000344152.5:p.Phe79Leu
ENST00000356839.9:c.301T>C	ENSP00000349297.5:p.Phe101Leu
ENST00000543245.6:c.370T>C	ENSP00000438689.2:p.Phe124Leu
ENST00000577191.5:n.378T>C
ENST00000577433.5:n.509T>C
ENST00000577857.5:n.252T>C
ENST00000579286.5:n.482T>C
ENST00000579886.2:c.202-156T>C	ENSP00000463246.1:n.202-156T>C
ENST00000580365.1:n.32T>C
ENST00000581562.5:n.348T>C
ENST00000582056.5:n.391T>C
ENST00000582166.1:n.189T>C
ENST00000582356.5:n.500T>C
ENST00000583312.5:c.301T>C	ENSP00000467920.1:p.Phe101Leu
ENST00000584103.5:c.301T>C	ENSP00000465353.1:p.Phe101Leu
NM_000018.3:c.301T>C	NP_000009.1:p.Phe101Leu
NM_001033859.2:c.235T>C	NP_001029031.1:p.Phe79Leu
NM_001270447.1:c.370T>C	NP_001257376.1:p.Phe124Leu
NM_001270448.1:c.73T>C	NP_001257377.1:p.Phe25Leu
XM_006721516.2:c.301T>C	XP_006721579.2:p.Phe101Leu
XM_011523829.1:c.301T>C	XP_011522131.1:p.Phe101Leu
XM_011523830.1:c.301T>C	XP_011522132.1:p.Phe101Leu
XR_934021.1:n.408T>C
XR_934022.1:n.408T>C
XR_934023.1:n.408T>C
XM_006721516.3:c.301T>C	XP_006721579.2:p.Phe101Leu
XM_011523829.2:c.301T>C	XP_011522131.1:p.Phe101Leu
XM_011523830.2:c.301T>C	XP_011522132.1:p.Phe101Leu
XM_024450741.1:c.301T>C	XP_024306509.1:p.Phe101Leu
XR_934021.2:n.360T>C
XR_934022.2:n.360T>C
XR_934023.2:n.360T>C
NM_000018.4:c.301T>C MANE Select	NP_000009.1:p.Phe101Leu
NM_001033859.3:c.235T>C	NP_001029031.1:p.Phe79Leu
NM_001270447.2:c.370T>C	NP_001257376.1:p.Phe124Leu
NM_001270448.2:c.73T>C	NP_001257377.1:p.Phe25Leu