Canonical Allele Identifier: CA397722566

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124120C>G (hg19) ; chr17:g.7220801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220801C>G , CM000679.2:g.7220801C>G	GRCh38
NC_000017.10:g.7124120C>G , CM000679.1:g.7124120C>G	GRCh37
NC_000017.9:g.7064844C>G	NCBI36
NG_007975.1:g.5968C>G
NG_008391.2:g.4250G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.313C>G MANE Select	ENSP00000349297.5:p.Leu105Val
ENST00000322910.9:c.*268C>G	ENSP00000325395.5:n.*268C>G
ENST00000350303.9:c.247C>G	ENSP00000344152.5:p.Leu83Val
ENST00000356839.9:c.313C>G	ENSP00000349297.5:p.Leu105Val
ENST00000543245.6:c.382C>G	ENSP00000438689.2:p.Leu128Val
ENST00000577191.5:n.390C>G
ENST00000577433.5:n.521C>G
ENST00000577857.5:n.264C>G
ENST00000579286.5:n.494C>G
ENST00000579886.2:c.202-144C>G	ENSP00000463246.1:n.202-144C>G
ENST00000580365.1:n.44C>G
ENST00000581378.5:c.12C>G
ENST00000581562.5:n.360C>G
ENST00000582056.5:n.403C>G
ENST00000582166.1:n.201C>G
ENST00000582356.5:n.512C>G
ENST00000583312.5:c.313C>G	ENSP00000467920.1:p.Leu105Val
ENST00000584103.5:c.313C>G	ENSP00000465353.1:p.Leu105Val
NM_000018.3:c.313C>G	NP_000009.1:p.Leu105Val
NM_001033859.2:c.247C>G	NP_001029031.1:p.Leu83Val
NM_001270447.1:c.382C>G	NP_001257376.1:p.Leu128Val
NM_001270448.1:c.85C>G	NP_001257377.1:p.Leu29Val
XM_006721516.2:c.313C>G	XP_006721579.2:p.Leu105Val
XM_011523829.1:c.313C>G	XP_011522131.1:p.Leu105Val
XM_011523830.1:c.313C>G	XP_011522132.1:p.Leu105Val
XR_934021.1:n.420C>G
XR_934022.1:n.420C>G
XR_934023.1:n.420C>G
XM_006721516.3:c.313C>G	XP_006721579.2:p.Leu105Val
XM_011523829.2:c.313C>G	XP_011522131.1:p.Leu105Val
XM_011523830.2:c.313C>G	XP_011522132.1:p.Leu105Val
XM_024450741.1:c.313C>G	XP_024306509.1:p.Leu105Val
XR_934021.2:n.372C>G
XR_934022.2:n.372C>G
XR_934023.2:n.372C>G
NM_000018.4:c.313C>G MANE Select	NP_000009.1:p.Leu105Val
NM_001033859.3:c.247C>G	NP_001029031.1:p.Leu83Val
NM_001270447.2:c.382C>G	NP_001257376.1:p.Leu128Val
NM_001270448.2:c.85C>G	NP_001257377.1:p.Leu29Val