Canonical Allele Identifier: CA497694002

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125305C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221986C>G , CM000679.2:g.7221986C>G	GRCh38
NC_000017.10:g.7125305C>G , CM000679.1:g.7125305C>G	GRCh37
NC_000017.9:g.7066029C>G	NCBI36
NG_007975.1:g.7153C>G
NG_008391.2:g.3065G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.657C>G MANE Select	ENSP00000349297.5:p.Pro219=
ENST00000322910.9:c.*612C>G	ENSP00000325395.5:n.*612C>G
ENST00000350303.9:c.591C>G	ENSP00000344152.5:p.Pro197=
ENST00000356839.9:c.657C>G	ENSP00000349297.5:p.Pro219=
ENST00000543245.6:c.726C>G	ENSP00000438689.2:p.Pro242=
ENST00000577191.5:n.734C>G
ENST00000577857.5:n.473C>G
ENST00000579286.5:n.838C>G
ENST00000580365.1:n.388C>G
ENST00000581378.5:c.375C>G
ENST00000581562.5:n.559C>G
ENST00000582379.1:n.41C>G
ENST00000583312.5:c.672C>G	ENSP00000467920.1:p.Pro224=
ENST00000583760.1:n.439C>G
NM_000018.3:c.657C>G	NP_000009.1:p.Pro219=
NM_001033859.2:c.591C>G	NP_001029031.1:p.Pro197=
NM_001270447.1:c.726C>G	NP_001257376.1:p.Pro242=
NM_001270448.1:c.429C>G	NP_001257377.1:p.Pro143=
XM_006721516.2:c.657C>G	XP_006721579.2:p.Pro219=
XM_011523829.1:c.657C>G	XP_011522131.1:p.Pro219=
XM_011523830.1:c.657C>G	XP_011522132.1:p.Pro219=
XR_934021.1:n.764C>G
XR_934022.1:n.764C>G
XR_934023.1:n.764C>G
XM_006721516.3:c.657C>G	XP_006721579.2:p.Pro219=
XM_011523829.2:c.657C>G	XP_011522131.1:p.Pro219=
XM_011523830.2:c.657C>G	XP_011522132.1:p.Pro219=
XM_024450741.1:c.657C>G	XP_024306509.1:p.Pro219=
XR_934021.2:n.716C>G
XR_934022.2:n.716C>G
XR_934023.2:n.716C>G
NM_000018.4:c.657C>G MANE Select	NP_000009.1:p.Pro219=
NM_001033859.3:c.591C>G	NP_001029031.1:p.Pro197=
NM_001270447.2:c.726C>G	NP_001257376.1:p.Pro242=
NM_001270448.2:c.429C>G	NP_001257377.1:p.Pro143=