Canonical Allele Identifier: CA397723078

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124894T>G (hg19) ; chr17:g.7221575T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221575T>G , CM000679.2:g.7221575T>G	GRCh38
NC_000017.10:g.7124894T>G , CM000679.1:g.7124894T>G	GRCh37
NC_000017.9:g.7065618T>G	NCBI36
NG_007975.1:g.6742T>G
NG_008391.2:g.3476A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.515T>G MANE Select	ENSP00000349297.5:p.Leu172Arg
ENST00000322910.9:c.*470T>G	ENSP00000325395.5:n.*470T>G
ENST00000350303.9:c.449T>G	ENSP00000344152.5:p.Leu150Arg
ENST00000356839.9:c.515T>G	ENSP00000349297.5:p.Leu172Arg
ENST00000543245.6:c.584T>G	ENSP00000438689.2:p.Leu195Arg
ENST00000577191.5:n.592T>G
ENST00000577433.5:n.723T>G
ENST00000577857.5:n.331T>G
ENST00000579286.5:n.696T>G
ENST00000579886.2:c.353T>G	ENSP00000463246.1:p.Leu118Arg
ENST00000580365.1:n.246T>G
ENST00000581378.5:c.233T>G
ENST00000581562.5:n.525-377T>G
ENST00000582166.1:n.496T>G
ENST00000583312.5:c.515T>G	ENSP00000467920.1:p.Leu172Arg
ENST00000583760.1:n.297T>G
NM_000018.3:c.515T>G	NP_000009.1:p.Leu172Arg
NM_001033859.2:c.449T>G	NP_001029031.1:p.Leu150Arg
NM_001270447.1:c.584T>G	NP_001257376.1:p.Leu195Arg
NM_001270448.1:c.287T>G	NP_001257377.1:p.Leu96Arg
XM_006721516.2:c.515T>G	XP_006721579.2:p.Leu172Arg
XM_011523829.1:c.515T>G	XP_011522131.1:p.Leu172Arg
XM_011523830.1:c.515T>G	XP_011522132.1:p.Leu172Arg
XR_934021.1:n.622T>G
XR_934022.1:n.622T>G
XR_934023.1:n.622T>G
XM_006721516.3:c.515T>G	XP_006721579.2:p.Leu172Arg
XM_011523829.2:c.515T>G	XP_011522131.1:p.Leu172Arg
XM_011523830.2:c.515T>G	XP_011522132.1:p.Leu172Arg
XM_024450741.1:c.515T>G	XP_024306509.1:p.Leu172Arg
XR_934021.2:n.574T>G
XR_934022.2:n.574T>G
XR_934023.2:n.574T>G
NM_000018.4:c.515T>G MANE Select	NP_000009.1:p.Leu172Arg
NM_001033859.3:c.449T>G	NP_001029031.1:p.Leu150Arg
NM_001270447.2:c.584T>G	NP_001257376.1:p.Leu195Arg
NM_001270448.2:c.287T>G	NP_001257377.1:p.Leu96Arg