Canonical Allele Identifier: CA497693893

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124341C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221022C>G , CM000679.2:g.7221022C>G	GRCh38
NC_000017.10:g.7124341C>G , CM000679.1:g.7124341C>G	GRCh37
NC_000017.9:g.7065065C>G	NCBI36
NG_007975.1:g.6189C>G
NG_008391.2:g.4029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.441C>G MANE Select	ENSP00000349297.5:p.Pro147=
ENST00000322910.9:c.*396C>G	ENSP00000325395.5:n.*396C>G
ENST00000350303.9:c.375C>G	ENSP00000344152.5:p.Pro125=
ENST00000356839.9:c.441C>G	ENSP00000349297.5:p.Pro147=
ENST00000543245.6:c.510C>G	ENSP00000438689.2:p.Pro170=
ENST00000577191.5:n.518C>G
ENST00000577433.5:n.649C>G
ENST00000577857.5:n.293+192C>G
ENST00000579286.5:n.622C>G
ENST00000579886.2:c.279C>G	ENSP00000463246.1:p.Pro93=
ENST00000580365.1:n.172C>G
ENST00000581378.5:c.140C>G
ENST00000581562.5:n.488C>G
ENST00000582056.5:n.624C>G
ENST00000582166.1:n.422C>G
ENST00000583312.5:c.441C>G	ENSP00000467920.1:p.Pro147=
NM_000018.3:c.441C>G	NP_000009.1:p.Pro147=
NM_001033859.2:c.375C>G	NP_001029031.1:p.Pro125=
NM_001270447.1:c.510C>G	NP_001257376.1:p.Pro170=
NM_001270448.1:c.213C>G	NP_001257377.1:p.Pro71=
XM_006721516.2:c.441C>G	XP_006721579.2:p.Pro147=
XM_011523829.1:c.441C>G	XP_011522131.1:p.Pro147=
XM_011523830.1:c.441C>G	XP_011522132.1:p.Pro147=
XR_934021.1:n.548C>G
XR_934022.1:n.548C>G
XR_934023.1:n.548C>G
XM_006721516.3:c.441C>G	XP_006721579.2:p.Pro147=
XM_011523829.2:c.441C>G	XP_011522131.1:p.Pro147=
XM_011523830.2:c.441C>G	XP_011522132.1:p.Pro147=
XM_024450741.1:c.441C>G	XP_024306509.1:p.Pro147=
XR_934021.2:n.500C>G
XR_934022.2:n.500C>G
XR_934023.2:n.500C>G
NM_000018.4:c.441C>G MANE Select	NP_000009.1:p.Pro147=
NM_001033859.3:c.375C>G	NP_001029031.1:p.Pro125=
NM_001270447.2:c.510C>G	NP_001257376.1:p.Pro170=
NM_001270448.2:c.213C>G	NP_001257377.1:p.Pro71=