Canonical Allele Identifier: CA397724147

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126113A>C (hg19) ; chr17:g.7222794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222794A>C , CM000679.2:g.7222794A>C	GRCh38
NC_000017.10:g.7126113A>C , CM000679.1:g.7126113A>C	GRCh37
NC_000017.9:g.7066837A>C	NCBI36
NG_007975.1:g.7961A>C
NG_008391.2:g.2257T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1006A>C MANE Select	ENSP00000349297.5:p.Ile336Leu
ENST00000322910.9:c.*961A>C	ENSP00000325395.5:n.*961A>C
ENST00000350303.9:c.940A>C	ENSP00000344152.5:p.Ile314Leu
ENST00000356839.9:c.1006A>C	ENSP00000349297.5:p.Ile336Leu
ENST00000543245.6:c.1075A>C	ENSP00000438689.2:p.Ile359Leu
ENST00000578824.5:n.155A>C
ENST00000581378.5:c.724A>C
ENST00000582379.1:n.390A>C
ENST00000583858.5:c.35A>C
NM_000018.3:c.1006A>C	NP_000009.1:p.Ile336Leu
NM_001033859.2:c.940A>C	NP_001029031.1:p.Ile314Leu
NM_001270447.1:c.1075A>C	NP_001257376.1:p.Ile359Leu
NM_001270448.1:c.778A>C	NP_001257377.1:p.Ile260Leu
XM_006721516.2:c.1006A>C	XP_006721579.2:p.Ile336Leu
XM_011523829.1:c.1006A>C	XP_011522131.1:p.Ile336Leu
XM_011523830.1:c.1006A>C	XP_011522132.1:p.Ile336Leu
XR_934021.1:n.1113A>C
XR_934022.1:n.1113A>C
XR_934023.1:n.1113A>C
XM_006721516.3:c.1006A>C	XP_006721579.2:p.Ile336Leu
XM_011523829.2:c.1006A>C	XP_011522131.1:p.Ile336Leu
XM_011523830.2:c.1006A>C	XP_011522132.1:p.Ile336Leu
XM_024450741.1:c.1006A>C	XP_024306509.1:p.Ile336Leu
XR_934021.2:n.1065A>C
XR_934022.2:n.1065A>C
XR_934023.2:n.1065A>C
NM_000018.4:c.1006A>C MANE Select	NP_000009.1:p.Ile336Leu
NM_001033859.3:c.940A>C	NP_001029031.1:p.Ile314Leu
NM_001270447.2:c.1075A>C	NP_001257376.1:p.Ile359Leu
NM_001270448.2:c.778A>C	NP_001257377.1:p.Ile260Leu