Canonical Allele Identifier: CA397722720

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124253A>C (hg19) ; chr17:g.7220934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220934A>C , CM000679.2:g.7220934A>C	GRCh38
NC_000017.10:g.7124253A>C , CM000679.1:g.7124253A>C	GRCh37
NC_000017.9:g.7064977A>C	NCBI36
NG_007975.1:g.6101A>C
NG_008391.2:g.4117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.353A>C MANE Select	ENSP00000349297.5:p.Asp118Ala
ENST00000322910.9:c.*308A>C	ENSP00000325395.5:n.*308A>C
ENST00000350303.9:c.287A>C	ENSP00000344152.5:p.Asp96Ala
ENST00000356839.9:c.353A>C	ENSP00000349297.5:p.Asp118Ala
ENST00000543245.6:c.422A>C	ENSP00000438689.2:p.Asp141Ala
ENST00000577191.5:n.430A>C
ENST00000577433.5:n.561A>C
ENST00000577857.5:n.293+104A>C
ENST00000579286.5:n.534A>C
ENST00000579886.2:c.202-11A>C	ENSP00000463246.1:n.202-11A>C
ENST00000580365.1:n.84A>C
ENST00000581378.5:c.52A>C
ENST00000581562.5:n.400A>C
ENST00000582056.5:n.536A>C
ENST00000582166.1:n.334A>C
ENST00000583312.5:c.353A>C	ENSP00000467920.1:p.Asp118Ala
ENST00000584103.5:c.386A>C	ENSP00000465353.1:p.Asp129Ala
NM_000018.3:c.353A>C	NP_000009.1:p.Asp118Ala
NM_001033859.2:c.287A>C	NP_001029031.1:p.Asp96Ala
NM_001270447.1:c.422A>C	NP_001257376.1:p.Asp141Ala
NM_001270448.1:c.125A>C	NP_001257377.1:p.Asp42Ala
XM_006721516.2:c.353A>C	XP_006721579.2:p.Asp118Ala
XM_011523829.1:c.353A>C	XP_011522131.1:p.Asp118Ala
XM_011523830.1:c.353A>C	XP_011522132.1:p.Asp118Ala
XR_934021.1:n.460A>C
XR_934022.1:n.460A>C
XR_934023.1:n.460A>C
XM_006721516.3:c.353A>C	XP_006721579.2:p.Asp118Ala
XM_011523829.2:c.353A>C	XP_011522131.1:p.Asp118Ala
XM_011523830.2:c.353A>C	XP_011522132.1:p.Asp118Ala
XM_024450741.1:c.353A>C	XP_024306509.1:p.Asp118Ala
XR_934021.2:n.412A>C
XR_934022.2:n.412A>C
XR_934023.2:n.412A>C
NM_000018.4:c.353A>C MANE Select	NP_000009.1:p.Asp118Ala
NM_001033859.3:c.287A>C	NP_001029031.1:p.Asp96Ala
NM_001270447.2:c.422A>C	NP_001257376.1:p.Asp141Ala
NM_001270448.2:c.125A>C	NP_001257377.1:p.Asp42Ala