Canonical Allele Identifier: CA397726266

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128411T>C (hg19) ; chr17:g.7225092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225092T>C , CM000679.2:g.7225092T>C	GRCh38
NC_000017.10:g.7128411T>C , CM000679.1:g.7128411T>C	GRCh37
NC_000017.9:g.7069135T>C	NCBI36
NG_007975.1:g.10259T>C
NG_033038.1:g.14453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1963T>C MANE Select	ENSP00000349297.5:p.Phe655Leu
ENST00000322910.9:c.*1918T>C	ENSP00000325395.5:n.*1918T>C
ENST00000350303.9:c.1897T>C	ENSP00000344152.5:p.Phe633Leu
ENST00000356839.9:c.1963T>C	ENSP00000349297.5:p.Phe655Leu
ENST00000542255.6:c.842T>C
ENST00000543245.6:c.2032T>C	ENSP00000438689.2:p.Phe678Leu
ENST00000578033.1:n.388T>C
ENST00000578319.5:n.544T>C
ENST00000578711.1:n.1588T>C
ENST00000578809.5:n.535T>C
ENST00000579425.5:n.1079T>C
ENST00000583848.5:c.329T>C	ENSP00000466487.1:n.329T>C
ENST00000583850.5:n.734T>C
ENST00000583858.5:c.894T>C
NM_000018.3:c.1963T>C	NP_000009.1:p.Phe655Leu
NM_001033859.2:c.1897T>C	NP_001029031.1:p.Phe633Leu
NM_001270447.1:c.2032T>C	NP_001257376.1:p.Phe678Leu
NM_001270448.1:c.1735T>C	NP_001257377.1:p.Phe579Leu
XM_006721516.2:c.1984T>C	XP_006721579.2:p.Phe662Leu
XM_011523829.1:c.1882T>C	XP_011522131.1:p.Phe628Leu
XM_011523830.1:c.1861T>C	XP_011522132.1:p.Phe621Leu
XR_934021.1:n.2066T>C
XR_934022.1:n.1972T>C
XR_934023.1:n.1993T>C
XM_006721516.3:c.1984T>C	XP_006721579.2:p.Phe662Leu
XM_011523829.2:c.1882T>C	XP_011522131.1:p.Phe628Leu
XM_011523830.2:c.1861T>C	XP_011522132.1:p.Phe621Leu
XM_024450741.1:c.1951T>C	XP_024306509.1:p.Phe651Leu
XR_934021.2:n.2018T>C
XR_934022.2:n.1924T>C
XR_934023.2:n.1945T>C
NM_000018.4:c.1963T>C MANE Select	NP_000009.1:p.Phe655Leu
NM_001033859.3:c.1897T>C	NP_001029031.1:p.Phe633Leu
NM_001270447.2:c.2032T>C	NP_001257376.1:p.Phe678Leu
NM_001270448.2:c.1735T>C	NP_001257377.1:p.Phe579Leu