Canonical Allele Identifier: CA8337674

Gene: ACADVL

Linked Data

• dbSNP Id: rs766594080
• ExAC: 17:7124211 A / C
• gnomAD v2: 17-7124211-A-C
• gnomAD v4: 17-7220892-A-C
• MyVariant Identifiers: chr17:g.7124211A>C (hg19) ; chr17:g.7220892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220892A>C , CM000679.2:g.7220892A>C	GRCh38
NC_000017.10:g.7124211A>C , CM000679.1:g.7124211A>C	GRCh37
NC_000017.9:g.7064935A>C	NCBI36
NG_007975.1:g.6059A>C
NG_008391.2:g.4159T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.343-32A>C MANE Select	ENSP00000349297.5:n.343-32A>C
ENST00000322910.9:c.*298-32A>C	ENSP00000325395.5:n.*298-32A>C
ENST00000350303.9:c.277-32A>C	ENSP00000344152.5:n.277-32A>C
ENST00000356839.9:c.343-32A>C	ENSP00000349297.5:n.343-32A>C
ENST00000543245.6:c.412-32A>C	ENSP00000438689.2:n.412-32A>C
ENST00000577191.5:n.420-32A>C
ENST00000577433.5:n.551-32A>C
ENST00000577857.5:n.293+62A>C
ENST00000579286.5:n.524-32A>C
ENST00000579886.2:c.202-53A>C	ENSP00000463246.1:n.202-53A>C
ENST00000580365.1:n.74-32A>C
ENST00000581378.5:c.42-32A>C
ENST00000581562.5:n.390-32A>C
ENST00000582056.5:n.494A>C
ENST00000582166.1:n.292A>C
ENST00000582356.5:n.603A>C
ENST00000583312.5:c.343-32A>C	ENSP00000467920.1:n.343-32A>C
ENST00000584103.5:c.344A>C	ENSP00000465353.1:p.Glu115Ala
NM_000018.3:c.343-32A>C	NP_000009.1:n.343-32A>C
NM_001033859.2:c.277-32A>C	NP_001029031.1:n.277-32A>C
NM_001270447.1:c.412-32A>C	NP_001257376.1:n.412-32A>C
NM_001270448.1:c.115-32A>C	NP_001257377.1:n.115-32A>C
XM_006721516.2:c.343-32A>C	XP_006721579.2:n.343-32A>C
XM_011523829.1:c.343-32A>C	XP_011522131.1:n.343-32A>C
XM_011523830.1:c.343-32A>C	XP_011522132.1:n.343-32A>C
XR_934021.1:n.450-32A>C
XR_934022.1:n.450-32A>C
XR_934023.1:n.450-32A>C
XM_006721516.3:c.343-32A>C	XP_006721579.2:n.343-32A>C
XM_011523829.2:c.343-32A>C	XP_011522131.1:n.343-32A>C
XM_011523830.2:c.343-32A>C	XP_011522132.1:n.343-32A>C
XM_024450741.1:c.343-32A>C	XP_024306509.1:n.343-32A>C
XR_934021.2:n.402-32A>C
XR_934022.2:n.402-32A>C
XR_934023.2:n.402-32A>C
NM_000018.4:c.343-32A>C MANE Select	NP_000009.1:n.343-32A>C
NM_001033859.3:c.277-32A>C	NP_001029031.1:n.277-32A>C
NM_001270447.2:c.412-32A>C	NP_001257376.1:n.412-32A>C
NM_001270448.2:c.115-32A>C	NP_001257377.1:n.115-32A>C