Canonical Allele Identifier: CA397723213

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124963A>C (hg19) ; chr17:g.7221644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221644A>C , CM000679.2:g.7221644A>C	GRCh38
NC_000017.10:g.7124963A>C , CM000679.1:g.7124963A>C	GRCh37
NC_000017.9:g.7065687A>C	NCBI36
NG_007975.1:g.6811A>C
NG_008391.2:g.3407T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.584A>C MANE Select	ENSP00000349297.5:p.Lys195Thr
ENST00000322910.9:c.*539A>C	ENSP00000325395.5:n.*539A>C
ENST00000350303.9:c.518A>C	ENSP00000344152.5:p.Lys173Thr
ENST00000356839.9:c.584A>C	ENSP00000349297.5:p.Lys195Thr
ENST00000543245.6:c.653A>C	ENSP00000438689.2:p.Lys218Thr
ENST00000577191.5:n.661A>C
ENST00000577433.5:n.792A>C
ENST00000577857.5:n.400A>C
ENST00000579286.5:n.765A>C
ENST00000579886.2:c.422A>C	ENSP00000463246.1:p.Lys141Thr
ENST00000580365.1:n.315A>C
ENST00000581378.5:c.302A>C
ENST00000581562.5:n.525-308A>C
ENST00000583312.5:c.584A>C	ENSP00000467920.1:p.Lys195Thr
ENST00000583760.1:n.366A>C
NM_000018.3:c.584A>C	NP_000009.1:p.Lys195Thr
NM_001033859.2:c.518A>C	NP_001029031.1:p.Lys173Thr
NM_001270447.1:c.653A>C	NP_001257376.1:p.Lys218Thr
NM_001270448.1:c.356A>C	NP_001257377.1:p.Lys119Thr
XM_006721516.2:c.584A>C	XP_006721579.2:p.Lys195Thr
XM_011523829.1:c.584A>C	XP_011522131.1:p.Lys195Thr
XM_011523830.1:c.584A>C	XP_011522132.1:p.Lys195Thr
XR_934021.1:n.691A>C
XR_934022.1:n.691A>C
XR_934023.1:n.691A>C
XM_006721516.3:c.584A>C	XP_006721579.2:p.Lys195Thr
XM_011523829.2:c.584A>C	XP_011522131.1:p.Lys195Thr
XM_011523830.2:c.584A>C	XP_011522132.1:p.Lys195Thr
XM_024450741.1:c.584A>C	XP_024306509.1:p.Lys195Thr
XR_934021.2:n.643A>C
XR_934022.2:n.643A>C
XR_934023.2:n.643A>C
NM_000018.4:c.584A>C MANE Select	NP_000009.1:p.Lys195Thr
NM_001033859.3:c.518A>C	NP_001029031.1:p.Lys173Thr
NM_001270447.2:c.653A>C	NP_001257376.1:p.Lys218Thr
NM_001270448.2:c.356A>C	NP_001257377.1:p.Lys119Thr