Canonical Allele Identifier: CA397723415

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125310G>C (hg19) ; chr17:g.7221991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221991G>C , CM000679.2:g.7221991G>C	GRCh38
NC_000017.10:g.7125310G>C , CM000679.1:g.7125310G>C	GRCh37
NC_000017.9:g.7066034G>C	NCBI36
NG_007975.1:g.7158G>C
NG_008391.2:g.3060C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.662G>C MANE Select	ENSP00000349297.5:p.Ser221Thr
ENST00000322910.9:c.*617G>C	ENSP00000325395.5:n.*617G>C
ENST00000350303.9:c.596G>C	ENSP00000344152.5:p.Ser199Thr
ENST00000356839.9:c.662G>C	ENSP00000349297.5:p.Ser221Thr
ENST00000543245.6:c.731G>C	ENSP00000438689.2:p.Ser244Thr
ENST00000577191.5:n.739G>C
ENST00000577857.5:n.478G>C
ENST00000579286.5:n.843G>C
ENST00000580365.1:n.393G>C
ENST00000581378.5:c.380G>C
ENST00000581562.5:n.564G>C
ENST00000582379.1:n.46G>C
ENST00000583760.1:n.444G>C
NM_000018.3:c.662G>C	NP_000009.1:p.Ser221Thr
NM_001033859.2:c.596G>C	NP_001029031.1:p.Ser199Thr
NM_001270447.1:c.731G>C	NP_001257376.1:p.Ser244Thr
NM_001270448.1:c.434G>C	NP_001257377.1:p.Ser145Thr
XM_006721516.2:c.662G>C	XP_006721579.2:p.Ser221Thr
XM_011523829.1:c.662G>C	XP_011522131.1:p.Ser221Thr
XM_011523830.1:c.662G>C	XP_011522132.1:p.Ser221Thr
XR_934021.1:n.769G>C
XR_934022.1:n.769G>C
XR_934023.1:n.769G>C
XM_006721516.3:c.662G>C	XP_006721579.2:p.Ser221Thr
XM_011523829.2:c.662G>C	XP_011522131.1:p.Ser221Thr
XM_011523830.2:c.662G>C	XP_011522132.1:p.Ser221Thr
XM_024450741.1:c.662G>C	XP_024306509.1:p.Ser221Thr
XR_934021.2:n.721G>C
XR_934022.2:n.721G>C
XR_934023.2:n.721G>C
NM_000018.4:c.662G>C MANE Select	NP_000009.1:p.Ser221Thr
NM_001033859.3:c.596G>C	NP_001029031.1:p.Ser199Thr
NM_001270447.2:c.731G>C	NP_001257376.1:p.Ser244Thr
NM_001270448.2:c.434G>C	NP_001257377.1:p.Ser145Thr