Canonical Allele Identifier: CA397723209

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1306101
• ClinVar RCV Id: RCV001767054
• dbSNP Id: rs753444680
• MyVariant Identifiers: chr17:g.7124960C>T (hg19) ; chr17:g.7221641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221641C>T , CM000679.2:g.7221641C>T	GRCh38
NC_000017.10:g.7124960C>T , CM000679.1:g.7124960C>T	GRCh37
NC_000017.9:g.7065684C>T	NCBI36
NG_007975.1:g.6808C>T
NG_008391.2:g.3410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.581C>T MANE Select	ENSP00000349297.5:p.Thr194Ile
ENST00000322910.9:c.*536C>T	ENSP00000325395.5:n.*536C>T
ENST00000350303.9:c.515C>T	ENSP00000344152.5:p.Thr172Ile
ENST00000356839.9:c.581C>T	ENSP00000349297.5:p.Thr194Ile
ENST00000543245.6:c.650C>T	ENSP00000438689.2:p.Thr217Ile
ENST00000577191.5:n.658C>T
ENST00000577433.5:n.789C>T
ENST00000577857.5:n.397C>T
ENST00000579286.5:n.762C>T
ENST00000579886.2:c.419C>T	ENSP00000463246.1:p.Thr140Ile
ENST00000580365.1:n.312C>T
ENST00000581378.5:c.299C>T
ENST00000581562.5:n.525-311C>T
ENST00000583312.5:c.581C>T	ENSP00000467920.1:p.Thr194Ile
ENST00000583760.1:n.363C>T
NM_000018.3:c.581C>T	NP_000009.1:p.Thr194Ile
NM_001033859.2:c.515C>T	NP_001029031.1:p.Thr172Ile
NM_001270447.1:c.650C>T	NP_001257376.1:p.Thr217Ile
NM_001270448.1:c.353C>T	NP_001257377.1:p.Thr118Ile
XM_006721516.2:c.581C>T	XP_006721579.2:p.Thr194Ile
XM_011523829.1:c.581C>T	XP_011522131.1:p.Thr194Ile
XM_011523830.1:c.581C>T	XP_011522132.1:p.Thr194Ile
XR_934021.1:n.688C>T
XR_934022.1:n.688C>T
XR_934023.1:n.688C>T
XM_006721516.3:c.581C>T	XP_006721579.2:p.Thr194Ile
XM_011523829.2:c.581C>T	XP_011522131.1:p.Thr194Ile
XM_011523830.2:c.581C>T	XP_011522132.1:p.Thr194Ile
XM_024450741.1:c.581C>T	XP_024306509.1:p.Thr194Ile
XR_934021.2:n.640C>T
XR_934022.2:n.640C>T
XR_934023.2:n.640C>T
NM_000018.4:c.581C>T MANE Select	NP_000009.1:p.Thr194Ile
NM_001033859.3:c.515C>T	NP_001029031.1:p.Thr172Ile
NM_001270447.2:c.650C>T	NP_001257376.1:p.Thr217Ile
NM_001270448.2:c.353C>T	NP_001257377.1:p.Thr118Ile