Canonical Allele Identifier: CA397723122

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124921A>C (hg19) ; chr17:g.7221602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221602A>C , CM000679.2:g.7221602A>C	GRCh38
NC_000017.10:g.7124921A>C , CM000679.1:g.7124921A>C	GRCh37
NC_000017.9:g.7065645A>C	NCBI36
NG_007975.1:g.6769A>C
NG_008391.2:g.3449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.542A>C MANE Select	ENSP00000349297.5:p.His181Pro
ENST00000322910.9:c.*497A>C	ENSP00000325395.5:n.*497A>C
ENST00000350303.9:c.476A>C	ENSP00000344152.5:p.His159Pro
ENST00000356839.9:c.542A>C	ENSP00000349297.5:p.His181Pro
ENST00000543245.6:c.611A>C	ENSP00000438689.2:p.His204Pro
ENST00000577191.5:n.619A>C
ENST00000577433.5:n.750A>C
ENST00000577857.5:n.358A>C
ENST00000579286.5:n.723A>C
ENST00000579886.2:c.380A>C	ENSP00000463246.1:p.His127Pro
ENST00000580365.1:n.273A>C
ENST00000581378.5:c.260A>C
ENST00000581562.5:n.525-350A>C
ENST00000582166.1:n.523A>C
ENST00000583312.5:c.542A>C	ENSP00000467920.1:p.His181Pro
ENST00000583760.1:n.324A>C
NM_000018.3:c.542A>C	NP_000009.1:p.His181Pro
NM_001033859.2:c.476A>C	NP_001029031.1:p.His159Pro
NM_001270447.1:c.611A>C	NP_001257376.1:p.His204Pro
NM_001270448.1:c.314A>C	NP_001257377.1:p.His105Pro
XM_006721516.2:c.542A>C	XP_006721579.2:p.His181Pro
XM_011523829.1:c.542A>C	XP_011522131.1:p.His181Pro
XM_011523830.1:c.542A>C	XP_011522132.1:p.His181Pro
XR_934021.1:n.649A>C
XR_934022.1:n.649A>C
XR_934023.1:n.649A>C
XM_006721516.3:c.542A>C	XP_006721579.2:p.His181Pro
XM_011523829.2:c.542A>C	XP_011522131.1:p.His181Pro
XM_011523830.2:c.542A>C	XP_011522132.1:p.His181Pro
XM_024450741.1:c.542A>C	XP_024306509.1:p.His181Pro
XR_934021.2:n.601A>C
XR_934022.2:n.601A>C
XR_934023.2:n.601A>C
NM_000018.4:c.542A>C MANE Select	NP_000009.1:p.His181Pro
NM_001033859.3:c.476A>C	NP_001029031.1:p.His159Pro
NM_001270447.2:c.611A>C	NP_001257376.1:p.His204Pro
NM_001270448.2:c.314A>C	NP_001257377.1:p.His105Pro