Canonical Allele Identifier: CA397723412

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125309A>C (hg19) ; chr17:g.7221990A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221990A>C , CM000679.2:g.7221990A>C	GRCh38
NC_000017.10:g.7125309A>C , CM000679.1:g.7125309A>C	GRCh37
NC_000017.9:g.7066033A>C	NCBI36
NG_007975.1:g.7157A>C
NG_008391.2:g.3061T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.661A>C MANE Select	ENSP00000349297.5:p.Ser221Arg
ENST00000322910.9:c.*616A>C	ENSP00000325395.5:n.*616A>C
ENST00000350303.9:c.595A>C	ENSP00000344152.5:p.Ser199Arg
ENST00000356839.9:c.661A>C	ENSP00000349297.5:p.Ser221Arg
ENST00000543245.6:c.730A>C	ENSP00000438689.2:p.Ser244Arg
ENST00000577191.5:n.738A>C
ENST00000577857.5:n.477A>C
ENST00000579286.5:n.842A>C
ENST00000580365.1:n.392A>C
ENST00000581378.5:c.379A>C
ENST00000581562.5:n.563A>C
ENST00000582379.1:n.45A>C
ENST00000583760.1:n.443A>C
NM_000018.3:c.661A>C	NP_000009.1:p.Ser221Arg
NM_001033859.2:c.595A>C	NP_001029031.1:p.Ser199Arg
NM_001270447.1:c.730A>C	NP_001257376.1:p.Ser244Arg
NM_001270448.1:c.433A>C	NP_001257377.1:p.Ser145Arg
XM_006721516.2:c.661A>C	XP_006721579.2:p.Ser221Arg
XM_011523829.1:c.661A>C	XP_011522131.1:p.Ser221Arg
XM_011523830.1:c.661A>C	XP_011522132.1:p.Ser221Arg
XR_934021.1:n.768A>C
XR_934022.1:n.768A>C
XR_934023.1:n.768A>C
XM_006721516.3:c.661A>C	XP_006721579.2:p.Ser221Arg
XM_011523829.2:c.661A>C	XP_011522131.1:p.Ser221Arg
XM_011523830.2:c.661A>C	XP_011522132.1:p.Ser221Arg
XM_024450741.1:c.661A>C	XP_024306509.1:p.Ser221Arg
XR_934021.2:n.720A>C
XR_934022.2:n.720A>C
XR_934023.2:n.720A>C
NM_000018.4:c.661A>C MANE Select	NP_000009.1:p.Ser221Arg
NM_001033859.3:c.595A>C	NP_001029031.1:p.Ser199Arg
NM_001270447.2:c.730A>C	NP_001257376.1:p.Ser244Arg
NM_001270448.2:c.433A>C	NP_001257377.1:p.Ser145Arg