Canonical Allele Identifier: CA397722890

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124331T>G (hg19) ; chr17:g.7221012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221012T>G , CM000679.2:g.7221012T>G	GRCh38
NC_000017.10:g.7124331T>G , CM000679.1:g.7124331T>G	GRCh37
NC_000017.9:g.7065055T>G	NCBI36
NG_007975.1:g.6179T>G
NG_008391.2:g.4039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.431T>G MANE Select	ENSP00000349297.5:p.Leu144Arg
ENST00000322910.9:c.*386T>G	ENSP00000325395.5:n.*386T>G
ENST00000350303.9:c.365T>G	ENSP00000344152.5:p.Leu122Arg
ENST00000356839.9:c.431T>G	ENSP00000349297.5:p.Leu144Arg
ENST00000543245.6:c.500T>G	ENSP00000438689.2:p.Leu167Arg
ENST00000577191.5:n.508T>G
ENST00000577433.5:n.639T>G
ENST00000577857.5:n.293+182T>G
ENST00000579286.5:n.612T>G
ENST00000579886.2:c.269T>G	ENSP00000463246.1:p.Leu90Arg
ENST00000580365.1:n.162T>G
ENST00000581378.5:c.130T>G
ENST00000581562.5:n.478T>G
ENST00000582056.5:n.614T>G
ENST00000582166.1:n.412T>G
ENST00000583312.5:c.431T>G	ENSP00000467920.1:p.Leu144Arg
ENST00000584103.5:c.464T>G	ENSP00000465353.1:p.Leu155Arg
NM_000018.3:c.431T>G	NP_000009.1:p.Leu144Arg
NM_001033859.2:c.365T>G	NP_001029031.1:p.Leu122Arg
NM_001270447.1:c.500T>G	NP_001257376.1:p.Leu167Arg
NM_001270448.1:c.203T>G	NP_001257377.1:p.Leu68Arg
XM_006721516.2:c.431T>G	XP_006721579.2:p.Leu144Arg
XM_011523829.1:c.431T>G	XP_011522131.1:p.Leu144Arg
XM_011523830.1:c.431T>G	XP_011522132.1:p.Leu144Arg
XR_934021.1:n.538T>G
XR_934022.1:n.538T>G
XR_934023.1:n.538T>G
XM_006721516.3:c.431T>G	XP_006721579.2:p.Leu144Arg
XM_011523829.2:c.431T>G	XP_011522131.1:p.Leu144Arg
XM_011523830.2:c.431T>G	XP_011522132.1:p.Leu144Arg
XM_024450741.1:c.431T>G	XP_024306509.1:p.Leu144Arg
XR_934021.2:n.490T>G
XR_934022.2:n.490T>G
XR_934023.2:n.490T>G
NM_000018.4:c.431T>G MANE Select	NP_000009.1:p.Leu144Arg
NM_001033859.3:c.365T>G	NP_001029031.1:p.Leu122Arg
NM_001270447.2:c.500T>G	NP_001257376.1:p.Leu167Arg
NM_001270448.2:c.203T>G	NP_001257377.1:p.Leu68Arg