Canonical Allele Identifier: CA397722624

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124149G>C (hg19) ; chr17:g.7220830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220830G>C , CM000679.2:g.7220830G>C	GRCh38
NC_000017.10:g.7124149G>C , CM000679.1:g.7124149G>C	GRCh37
NC_000017.9:g.7064873G>C	NCBI36
NG_007975.1:g.5997G>C
NG_008391.2:g.4221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.342G>C MANE Select	ENSP00000349297.5:p.Glu114Asp
ENST00000322910.9:c.*297G>C	ENSP00000325395.5:n.*297G>C
ENST00000350303.9:c.276G>C	ENSP00000344152.5:p.Glu92Asp
ENST00000356839.9:c.342G>C	ENSP00000349297.5:p.Glu114Asp
ENST00000543245.6:c.411G>C	ENSP00000438689.2:p.Glu137Asp
ENST00000577191.5:n.419G>C
ENST00000577433.5:n.550G>C
ENST00000577857.5:n.293G>C
ENST00000579286.5:n.523G>C
ENST00000579886.2:c.202-115G>C	ENSP00000463246.1:n.202-115G>C
ENST00000580365.1:n.73G>C
ENST00000581378.5:c.41G>C
ENST00000581562.5:n.389G>C
ENST00000582056.5:n.432G>C
ENST00000582166.1:n.230G>C
ENST00000582356.5:n.541G>C
ENST00000583312.5:c.342G>C	ENSP00000467920.1:p.Glu114Asp
ENST00000584103.5:c.342G>C	ENSP00000465353.1:p.Glu114Asp
NM_000018.3:c.342G>C	NP_000009.1:p.Glu114Asp
NM_001033859.2:c.276G>C	NP_001029031.1:p.Glu92Asp
NM_001270447.1:c.411G>C	NP_001257376.1:p.Glu137Asp
NM_001270448.1:c.114G>C	NP_001257377.1:p.Glu38Asp
XM_006721516.2:c.342G>C	XP_006721579.2:p.Glu114Asp
XM_011523829.1:c.342G>C	XP_011522131.1:p.Glu114Asp
XM_011523830.1:c.342G>C	XP_011522132.1:p.Glu114Asp
XR_934021.1:n.449G>C
XR_934022.1:n.449G>C
XR_934023.1:n.449G>C
XM_006721516.3:c.342G>C	XP_006721579.2:p.Glu114Asp
XM_011523829.2:c.342G>C	XP_011522131.1:p.Glu114Asp
XM_011523830.2:c.342G>C	XP_011522132.1:p.Glu114Asp
XM_024450741.1:c.342G>C	XP_024306509.1:p.Glu114Asp
XR_934021.2:n.401G>C
XR_934022.2:n.401G>C
XR_934023.2:n.401G>C
NM_000018.4:c.342G>C MANE Select	NP_000009.1:p.Glu114Asp
NM_001033859.3:c.276G>C	NP_001029031.1:p.Glu92Asp
NM_001270447.2:c.411G>C	NP_001257376.1:p.Glu137Asp
NM_001270448.2:c.114G>C	NP_001257377.1:p.Glu38Asp