Canonical Allele Identifier: CA397723607

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125401G>C (hg19) ; chr17:g.7222082G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222082G>C , CM000679.2:g.7222082G>C	GRCh38
NC_000017.10:g.7125401G>C , CM000679.1:g.7125401G>C	GRCh37
NC_000017.9:g.7066125G>C	NCBI36
NG_007975.1:g.7249G>C
NG_008391.2:g.2969C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.752+1G>C MANE Select	ENSP00000349297.5:n.752+1G>C
ENST00000322910.9:c.*707+1G>C	ENSP00000325395.5:n.*707+1G>C
ENST00000350303.9:c.686+1G>C	ENSP00000344152.5:n.686+1G>C
ENST00000356839.9:c.752+1G>C	ENSP00000349297.5:n.752+1G>C
ENST00000543245.6:c.821+1G>C	ENSP00000438689.2:n.821+1G>C
ENST00000577191.5:n.830G>C
ENST00000580365.1:n.484G>C
ENST00000581378.5:c.470+1G>C
ENST00000582379.1:n.136+1G>C
ENST00000583760.1:n.535G>C
NM_000018.3:c.752+1G>C	NP_000009.1:n.752+1G>C
NM_001033859.2:c.686+1G>C	NP_001029031.1:n.686+1G>C
NM_001270447.1:c.821+1G>C	NP_001257376.1:n.821+1G>C
NM_001270448.1:c.524+1G>C	NP_001257377.1:n.524+1G>C
XM_006721516.2:c.752+1G>C	XP_006721579.2:n.752+1G>C
XM_011523829.1:c.752+1G>C	XP_011522131.1:n.752+1G>C
XM_011523830.1:c.752+1G>C	XP_011522132.1:n.752+1G>C
XR_934021.1:n.859+1G>C
XR_934022.1:n.859+1G>C
XR_934023.1:n.859+1G>C
XM_006721516.3:c.752+1G>C	XP_006721579.2:n.752+1G>C
XM_011523829.2:c.752+1G>C	XP_011522131.1:n.752+1G>C
XM_011523830.2:c.752+1G>C	XP_011522132.1:n.752+1G>C
XM_024450741.1:c.752+1G>C	XP_024306509.1:n.752+1G>C
XR_934021.2:n.811+1G>C
XR_934022.2:n.811+1G>C
XR_934023.2:n.811+1G>C
NM_000018.4:c.752+1G>C MANE Select	NP_000009.1:n.752+1G>C
NM_001033859.3:c.686+1G>C	NP_001029031.1:n.686+1G>C
NM_001270447.2:c.821+1G>C	NP_001257376.1:n.821+1G>C
NM_001270448.2:c.524+1G>C	NP_001257377.1:n.524+1G>C