Canonical Allele Identifier: CA497693894

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221022-C-T
• MyVariant Identifiers: chr17:g.7124341C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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