Canonical Allele Identifier: CA397723129

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2021338
• ClinVar RCV Id: RCV002862577
• MyVariant Identifiers: chr17:g.7124923C>T (hg19) ; chr17:g.7221604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221604C>T , CM000679.2:g.7221604C>T	GRCh38
NC_000017.10:g.7124923C>T , CM000679.1:g.7124923C>T	GRCh37
NC_000017.9:g.7065647C>T	NCBI36
NG_007975.1:g.6771C>T
NG_008391.2:g.3447G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.544C>T MANE Select	ENSP00000349297.5:p.Gln182Ter
ENST00000322910.9:c.*499C>T	ENSP00000325395.5:n.*499C>T
ENST00000350303.9:c.478C>T	ENSP00000344152.5:p.Gln160Ter
ENST00000356839.9:c.544C>T	ENSP00000349297.5:p.Gln182Ter
ENST00000543245.6:c.613C>T	ENSP00000438689.2:p.Gln205Ter
ENST00000577191.5:n.621C>T
ENST00000577433.5:n.752C>T
ENST00000577857.5:n.360C>T
ENST00000579286.5:n.725C>T
ENST00000579886.2:c.382C>T	ENSP00000463246.1:p.Gln128Ter
ENST00000580365.1:n.275C>T
ENST00000581378.5:c.262C>T
ENST00000581562.5:n.525-348C>T
ENST00000582166.1:n.525C>T
ENST00000583312.5:c.544C>T	ENSP00000467920.1:p.Gln182Ter
ENST00000583760.1:n.326C>T
NM_000018.3:c.544C>T	NP_000009.1:p.Gln182Ter
NM_001033859.2:c.478C>T	NP_001029031.1:p.Gln160Ter
NM_001270447.1:c.613C>T	NP_001257376.1:p.Gln205Ter
NM_001270448.1:c.316C>T	NP_001257377.1:p.Gln106Ter
XM_006721516.2:c.544C>T	XP_006721579.2:p.Gln182Ter
XM_011523829.1:c.544C>T	XP_011522131.1:p.Gln182Ter
XM_011523830.1:c.544C>T	XP_011522132.1:p.Gln182Ter
XR_934021.1:n.651C>T
XR_934022.1:n.651C>T
XR_934023.1:n.651C>T
XM_006721516.3:c.544C>T	XP_006721579.2:p.Gln182Ter
XM_011523829.2:c.544C>T	XP_011522131.1:p.Gln182Ter
XM_011523830.2:c.544C>T	XP_011522132.1:p.Gln182Ter
XM_024450741.1:c.544C>T	XP_024306509.1:p.Gln182Ter
XR_934021.2:n.603C>T
XR_934022.2:n.603C>T
XR_934023.2:n.603C>T
NM_000018.4:c.544C>T MANE Select	NP_000009.1:p.Gln182Ter
NM_001033859.3:c.478C>T	NP_001029031.1:p.Gln160Ter
NM_001270447.2:c.613C>T	NP_001257376.1:p.Gln205Ter
NM_001270448.2:c.316C>T	NP_001257377.1:p.Gln106Ter