Canonical Allele Identifier: CA397722959

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2325849
• ClinVar RCV Id: RCV002906827
• gnomAD v4: 17-7221048-G-A
• MyVariant Identifiers: chr17:g.7124367G>A (hg19) ; chr17:g.7221048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221048G>A , CM000679.2:g.7221048G>A	GRCh38
NC_000017.10:g.7124367G>A , CM000679.1:g.7124367G>A	GRCh37
NC_000017.9:g.7065091G>A	NCBI36
NG_007975.1:g.6215G>A
NG_008391.2:g.4003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.467G>A MANE Select	ENSP00000349297.5:p.Cys156Tyr
ENST00000322910.9:c.*422G>A	ENSP00000325395.5:n.*422G>A
ENST00000350303.9:c.401G>A	ENSP00000344152.5:p.Cys134Tyr
ENST00000356839.9:c.467G>A	ENSP00000349297.5:p.Cys156Tyr
ENST00000543245.6:c.536G>A	ENSP00000438689.2:p.Cys179Tyr
ENST00000577191.5:n.544G>A
ENST00000577433.5:n.675G>A
ENST00000577857.5:n.293+218G>A
ENST00000579286.5:n.648G>A
ENST00000579886.2:c.305G>A	ENSP00000463246.1:p.Cys102Tyr
ENST00000580365.1:n.198G>A
ENST00000581378.5:c.166G>A
ENST00000581562.5:n.514G>A
ENST00000582056.5:n.650G>A
ENST00000582166.1:n.448G>A
ENST00000583312.5:c.467G>A	ENSP00000467920.1:p.Cys156Tyr
NM_000018.3:c.467G>A	NP_000009.1:p.Cys156Tyr
NM_001033859.2:c.401G>A	NP_001029031.1:p.Cys134Tyr
NM_001270447.1:c.536G>A	NP_001257376.1:p.Cys179Tyr
NM_001270448.1:c.239G>A	NP_001257377.1:p.Cys80Tyr
XM_006721516.2:c.467G>A	XP_006721579.2:p.Cys156Tyr
XM_011523829.1:c.467G>A	XP_011522131.1:p.Cys156Tyr
XM_011523830.1:c.467G>A	XP_011522132.1:p.Cys156Tyr
XR_934021.1:n.574G>A
XR_934022.1:n.574G>A
XR_934023.1:n.574G>A
XM_006721516.3:c.467G>A	XP_006721579.2:p.Cys156Tyr
XM_011523829.2:c.467G>A	XP_011522131.1:p.Cys156Tyr
XM_011523830.2:c.467G>A	XP_011522132.1:p.Cys156Tyr
XM_024450741.1:c.467G>A	XP_024306509.1:p.Cys156Tyr
XR_934021.2:n.526G>A
XR_934022.2:n.526G>A
XR_934023.2:n.526G>A
NM_000018.4:c.467G>A MANE Select	NP_000009.1:p.Cys156Tyr
NM_001033859.3:c.401G>A	NP_001029031.1:p.Cys134Tyr
NM_001270447.2:c.536G>A	NP_001257376.1:p.Cys179Tyr
NM_001270448.2:c.239G>A	NP_001257377.1:p.Cys80Tyr