Canonical Allele Identifier: CA397723196

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 501313
• ClinVar RCV Id: RCV000597061 ; RCV001200740
• dbSNP Id: rs1555528189
• MyVariant Identifiers: chr17:g.7124954T>C (hg19) ; chr17:g.7221635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221635T>C , CM000679.2:g.7221635T>C	GRCh38
NC_000017.10:g.7124954T>C , CM000679.1:g.7124954T>C	GRCh37
NC_000017.9:g.7065678T>C	NCBI36
NG_007975.1:g.6802T>C
NG_008391.2:g.3416A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.575T>C MANE Select	ENSP00000349297.5:p.Phe192Ser
ENST00000322910.9:c.*530T>C	ENSP00000325395.5:n.*530T>C
ENST00000350303.9:c.509T>C	ENSP00000344152.5:p.Phe170Ser
ENST00000356839.9:c.575T>C	ENSP00000349297.5:p.Phe192Ser
ENST00000543245.6:c.644T>C	ENSP00000438689.2:p.Phe215Ser
ENST00000577191.5:n.652T>C
ENST00000577433.5:n.783T>C
ENST00000577857.5:n.391T>C
ENST00000579286.5:n.756T>C
ENST00000579886.2:c.413T>C	ENSP00000463246.1:p.Phe138Ser
ENST00000580365.1:n.306T>C
ENST00000581378.5:c.293T>C
ENST00000581562.5:n.525-317T>C
ENST00000583312.5:c.575T>C	ENSP00000467920.1:p.Phe192Ser
ENST00000583760.1:n.357T>C
NM_000018.3:c.575T>C	NP_000009.1:p.Phe192Ser
NM_001033859.2:c.509T>C	NP_001029031.1:p.Phe170Ser
NM_001270447.1:c.644T>C	NP_001257376.1:p.Phe215Ser
NM_001270448.1:c.347T>C	NP_001257377.1:p.Phe116Ser
XM_006721516.2:c.575T>C	XP_006721579.2:p.Phe192Ser
XM_011523829.1:c.575T>C	XP_011522131.1:p.Phe192Ser
XM_011523830.1:c.575T>C	XP_011522132.1:p.Phe192Ser
XR_934021.1:n.682T>C
XR_934022.1:n.682T>C
XR_934023.1:n.682T>C
XM_006721516.3:c.575T>C	XP_006721579.2:p.Phe192Ser
XM_011523829.2:c.575T>C	XP_011522131.1:p.Phe192Ser
XM_011523830.2:c.575T>C	XP_011522132.1:p.Phe192Ser
XM_024450741.1:c.575T>C	XP_024306509.1:p.Phe192Ser
XR_934021.2:n.634T>C
XR_934022.2:n.634T>C
XR_934023.2:n.634T>C
NM_000018.4:c.575T>C MANE Select	NP_000009.1:p.Phe192Ser
NM_001033859.3:c.509T>C	NP_001029031.1:p.Phe170Ser
NM_001270447.2:c.644T>C	NP_001257376.1:p.Phe215Ser
NM_001270448.2:c.347T>C	NP_001257377.1:p.Phe116Ser