Canonical Allele Identifier: CA497619724

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1459047
• ClinVar RCV Id: RCV001958813
• dbSNP Id: rs2071228805
• gnomAD v4: 17-7221591-C-G
• MyVariant Identifiers: chr17:g.7124910C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221591C>G , CM000679.2:g.7221591C>G	GRCh38
NC_000017.10:g.7124910C>G , CM000679.1:g.7124910C>G	GRCh37
NC_000017.9:g.7065634C>G	NCBI36
NG_007975.1:g.6758C>G
NG_008391.2:g.3460G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.531C>G MANE Select	ENSP00000349297.5:p.Thr177=
ENST00000322910.9:c.*486C>G	ENSP00000325395.5:n.*486C>G
ENST00000350303.9:c.465C>G	ENSP00000344152.5:p.Thr155=
ENST00000356839.9:c.531C>G	ENSP00000349297.5:p.Thr177=
ENST00000543245.6:c.600C>G	ENSP00000438689.2:p.Thr200=
ENST00000577191.5:n.608C>G
ENST00000577433.5:n.739C>G
ENST00000577857.5:n.347C>G
ENST00000579286.5:n.712C>G
ENST00000579886.2:c.369C>G	ENSP00000463246.1:p.Thr123=
ENST00000580365.1:n.262C>G
ENST00000581378.5:c.249C>G
ENST00000581562.5:n.525-361C>G
ENST00000582166.1:n.512C>G
ENST00000583312.5:c.531C>G	ENSP00000467920.1:p.Thr177=
ENST00000583760.1:n.313C>G
NM_000018.3:c.531C>G	NP_000009.1:p.Thr177=
NM_001033859.2:c.465C>G	NP_001029031.1:p.Thr155=
NM_001270447.1:c.600C>G	NP_001257376.1:p.Thr200=
NM_001270448.1:c.303C>G	NP_001257377.1:p.Thr101=
XM_006721516.2:c.531C>G	XP_006721579.2:p.Thr177=
XM_011523829.1:c.531C>G	XP_011522131.1:p.Thr177=
XM_011523830.1:c.531C>G	XP_011522132.1:p.Thr177=
XR_934021.1:n.638C>G
XR_934022.1:n.638C>G
XR_934023.1:n.638C>G
XM_006721516.3:c.531C>G	XP_006721579.2:p.Thr177=
XM_011523829.2:c.531C>G	XP_011522131.1:p.Thr177=
XM_011523830.2:c.531C>G	XP_011522132.1:p.Thr177=
XM_024450741.1:c.531C>G	XP_024306509.1:p.Thr177=
XR_934021.2:n.590C>G
XR_934022.2:n.590C>G
XR_934023.2:n.590C>G
NM_000018.4:c.531C>G MANE Select	NP_000009.1:p.Thr177=
NM_001033859.3:c.465C>G	NP_001029031.1:p.Thr155=
NM_001270447.2:c.600C>G	NP_001257376.1:p.Thr200=
NM_001270448.2:c.303C>G	NP_001257377.1:p.Thr101=