Canonical Allele Identifier: CA8337746

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1161092
• ClinVar RCV Id: RCV001505483
• dbSNP Id: rs370565071
• ExAC: 17:7124877 C / T
• gnomAD v2: 17-7124877-C-T
• gnomAD v3: 17-7221558-C-T
• gnomAD v4: 17-7221558-C-T
• MyVariant Identifiers: chr17:g.7124877C>T (hg19) ; chr17:g.7221558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221558C>T , CM000679.2:g.7221558C>T	GRCh38
NC_000017.10:g.7124877C>T , CM000679.1:g.7124877C>T	GRCh37
NC_000017.9:g.7065601C>T	NCBI36
NG_007975.1:g.6725C>T
NG_008391.2:g.3493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.498C>T MANE Select	ENSP00000349297.5:p.Ile166=
ENST00000322910.9:c.*453C>T	ENSP00000325395.5:n.*453C>T
ENST00000350303.9:c.432C>T	ENSP00000344152.5:p.Ile144=
ENST00000356839.9:c.498C>T	ENSP00000349297.5:p.Ile166=
ENST00000543245.6:c.567C>T	ENSP00000438689.2:p.Ile189=
ENST00000577191.5:n.575C>T
ENST00000577433.5:n.706C>T
ENST00000577857.5:n.314C>T
ENST00000579286.5:n.679C>T
ENST00000579886.2:c.336C>T	ENSP00000463246.1:p.Ile112=
ENST00000580365.1:n.229C>T
ENST00000581378.5:c.216C>T
ENST00000581562.5:n.525-394C>T
ENST00000582166.1:n.479C>T
ENST00000583312.5:c.498C>T	ENSP00000467920.1:p.Ile166=
ENST00000583760.1:n.280C>T
NM_000018.3:c.498C>T	NP_000009.1:p.Ile166=
NM_001033859.2:c.432C>T	NP_001029031.1:p.Ile144=
NM_001270447.1:c.567C>T	NP_001257376.1:p.Ile189=
NM_001270448.1:c.270C>T	NP_001257377.1:p.Ile90=
XM_006721516.2:c.498C>T	XP_006721579.2:p.Ile166=
XM_011523829.1:c.498C>T	XP_011522131.1:p.Ile166=
XM_011523830.1:c.498C>T	XP_011522132.1:p.Ile166=
XR_934021.1:n.605C>T
XR_934022.1:n.605C>T
XR_934023.1:n.605C>T
XM_006721516.3:c.498C>T	XP_006721579.2:p.Ile166=
XM_011523829.2:c.498C>T	XP_011522131.1:p.Ile166=
XM_011523830.2:c.498C>T	XP_011522132.1:p.Ile166=
XM_024450741.1:c.498C>T	XP_024306509.1:p.Ile166=
XR_934021.2:n.557C>T
XR_934022.2:n.557C>T
XR_934023.2:n.557C>T
NM_000018.4:c.498C>T MANE Select	NP_000009.1:p.Ile166=
NM_001033859.3:c.432C>T	NP_001029031.1:p.Ile144=
NM_001270447.2:c.567C>T	NP_001257376.1:p.Ile189=
NM_001270448.2:c.270C>T	NP_001257377.1:p.Ile90=