Canonical Allele Identifier: CA8337961

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1140704
• ClinVar RCV Id: RCV001477888
• dbSNP Id: rs774273664
• ExAC: 17:7126463 C / T
• gnomAD v2: 17-7126463-C-T
• gnomAD v4: 17-7223144-C-T
• MyVariant Identifiers: chr17:g.7126463C>T (hg19) ; chr17:g.7223144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223144C>T , CM000679.2:g.7223144C>T	GRCh38
NC_000017.10:g.7126463C>T , CM000679.1:g.7126463C>T	GRCh37
NC_000017.9:g.7067187C>T	NCBI36
NG_007975.1:g.8311C>T
NG_008391.2:g.1907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1089C>T MANE Select	ENSP00000349297.5:p.Ala363=
ENST00000322910.9:c.*1044C>T	ENSP00000325395.5:n.*1044C>T
ENST00000350303.9:c.1023C>T	ENSP00000344152.5:p.Ala341=
ENST00000356839.9:c.1089C>T	ENSP00000349297.5:p.Ala363=
ENST00000543245.6:c.1158C>T	ENSP00000438689.2:p.Ala386=
ENST00000578579.2:n.38C>T
ENST00000578824.5:n.505C>T
ENST00000579425.5:n.113C>T
ENST00000582379.1:n.740C>T
ENST00000583858.5:c.118C>T
ENST00000585203.6:n.297C>T
NM_000018.3:c.1089C>T	NP_000009.1:p.Ala363=
NM_001033859.2:c.1023C>T	NP_001029031.1:p.Ala341=
NM_001270447.1:c.1158C>T	NP_001257376.1:p.Ala386=
NM_001270448.1:c.861C>T	NP_001257377.1:p.Ala287=
XM_006721516.2:c.1089C>T	XP_006721579.2:p.Ala363=
XM_011523829.1:c.1089C>T	XP_011522131.1:p.Ala363=
XM_011523830.1:c.1089C>T	XP_011522132.1:p.Ala363=
XR_934021.1:n.1196C>T
XR_934022.1:n.1196C>T
XR_934023.1:n.1196C>T
XM_006721516.3:c.1089C>T	XP_006721579.2:p.Ala363=
XM_011523829.2:c.1089C>T	XP_011522131.1:p.Ala363=
XM_011523830.2:c.1089C>T	XP_011522132.1:p.Ala363=
XM_024450741.1:c.1089C>T	XP_024306509.1:p.Ala363=
XR_934021.2:n.1148C>T
XR_934022.2:n.1148C>T
XR_934023.2:n.1148C>T
NM_000018.4:c.1089C>T MANE Select	NP_000009.1:p.Ala363=
NM_001033859.3:c.1023C>T	NP_001029031.1:p.Ala341=
NM_001270447.2:c.1158C>T	NP_001257376.1:p.Ala386=
NM_001270448.2:c.861C>T	NP_001257377.1:p.Ala287=