Canonical Allele Identifier: CA497693848

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124305C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220986C>A , CM000679.2:g.7220986C>A	GRCh38
NC_000017.10:g.7124305C>A , CM000679.1:g.7124305C>A	GRCh37
NC_000017.9:g.7065029C>A	NCBI36
NG_007975.1:g.6153C>A
NG_008391.2:g.4065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.405C>A MANE Select	ENSP00000349297.5:p.Gly135=
ENST00000322910.9:c.*360C>A	ENSP00000325395.5:n.*360C>A
ENST00000350303.9:c.339C>A	ENSP00000344152.5:p.Gly113=
ENST00000356839.9:c.405C>A	ENSP00000349297.5:p.Gly135=
ENST00000543245.6:c.474C>A	ENSP00000438689.2:p.Gly158=
ENST00000577191.5:n.482C>A
ENST00000577433.5:n.613C>A
ENST00000577857.5:n.293+156C>A
ENST00000579286.5:n.586C>A
ENST00000579886.2:c.243C>A	ENSP00000463246.1:p.Gly81=
ENST00000580365.1:n.136C>A
ENST00000581378.5:c.104C>A
ENST00000581562.5:n.452C>A
ENST00000582056.5:n.588C>A
ENST00000582166.1:n.386C>A
ENST00000583312.5:c.405C>A	ENSP00000467920.1:p.Gly135=
ENST00000584103.5:c.438C>A	ENSP00000465353.1:p.Gly146=
NM_000018.3:c.405C>A	NP_000009.1:p.Gly135=
NM_001033859.2:c.339C>A	NP_001029031.1:p.Gly113=
NM_001270447.1:c.474C>A	NP_001257376.1:p.Gly158=
NM_001270448.1:c.177C>A	NP_001257377.1:p.Gly59=
XM_006721516.2:c.405C>A	XP_006721579.2:p.Gly135=
XM_011523829.1:c.405C>A	XP_011522131.1:p.Gly135=
XM_011523830.1:c.405C>A	XP_011522132.1:p.Gly135=
XR_934021.1:n.512C>A
XR_934022.1:n.512C>A
XR_934023.1:n.512C>A
XM_006721516.3:c.405C>A	XP_006721579.2:p.Gly135=
XM_011523829.2:c.405C>A	XP_011522131.1:p.Gly135=
XM_011523830.2:c.405C>A	XP_011522132.1:p.Gly135=
XM_024450741.1:c.405C>A	XP_024306509.1:p.Gly135=
XR_934021.2:n.464C>A
XR_934022.2:n.464C>A
XR_934023.2:n.464C>A
NM_000018.4:c.405C>A MANE Select	NP_000009.1:p.Gly135=
NM_001033859.3:c.339C>A	NP_001029031.1:p.Gly113=
NM_001270447.2:c.474C>A	NP_001257376.1:p.Gly158=
NM_001270448.2:c.177C>A	NP_001257377.1:p.Gly59=