Canonical Allele Identifier: CA8338116

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1078843
• ClinVar RCV Id: RCV001393881
• dbSNP Id: rs779807335
• ExAC: 17:7127467 C / T
• gnomAD v2: 17-7127467-C-T
• gnomAD v4: 17-7224148-C-T
• MyVariant Identifiers: chr17:g.7127467C>T (hg19) ; chr17:g.7224148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224148C>T , CM000679.2:g.7224148C>T	GRCh38
NC_000017.10:g.7127467C>T , CM000679.1:g.7127467C>T	GRCh37
NC_000017.9:g.7068191C>T	NCBI36
NG_007975.1:g.9315C>T
NG_008391.2:g.903G>A
NG_033038.1:g.15397G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1437C>T MANE Select	ENSP00000349297.5:p.Asp479=
ENST00000322910.9:c.*1392C>T	ENSP00000325395.5:n.*1392C>T
ENST00000350303.9:c.1371C>T	ENSP00000344152.5:p.Asp457=
ENST00000356839.9:c.1437C>T	ENSP00000349297.5:p.Asp479=
ENST00000542255.6:c.295C>T
ENST00000543245.6:c.1506C>T	ENSP00000438689.2:p.Asp502=
ENST00000578711.1:n.644C>T
ENST00000579391.1:n.45C>T
ENST00000579425.5:n.553C>T
ENST00000579546.1:c.271+79C>T
ENST00000579894.5:n.224C>T
ENST00000583074.5:n.153+79C>T
ENST00000583850.5:n.212C>T
ENST00000583858.5:c.463+79C>T
ENST00000585203.6:n.628C>T
NM_000018.3:c.1437C>T	NP_000009.1:p.Asp479=
NM_001033859.2:c.1371C>T	NP_001029031.1:p.Asp457=
NM_001270447.1:c.1506C>T	NP_001257376.1:p.Asp502=
NM_001270448.1:c.1209C>T	NP_001257377.1:p.Asp403=
XM_006721516.2:c.1437C>T	XP_006721579.2:p.Asp479=
XM_011523829.1:c.1434+79C>T	XP_011522131.1:n.1434+79C>T
XM_011523830.1:c.1434+79C>T	XP_011522132.1:n.1434+79C>T
XR_934021.1:n.1544C>T
XR_934022.1:n.1541+79C>T
XR_934023.1:n.1541+79C>T
XM_006721516.3:c.1437C>T	XP_006721579.2:p.Asp479=
XM_011523829.2:c.1434+79C>T	XP_011522131.1:n.1434+79C>T
XM_011523830.2:c.1434+79C>T	XP_011522132.1:n.1434+79C>T
XM_024450741.1:c.1434+79C>T	XP_024306509.1:n.1434+79C>T
XR_934021.2:n.1496C>T
XR_934022.2:n.1493+79C>T
XR_934023.2:n.1493+79C>T
NM_000018.4:c.1437C>T MANE Select	NP_000009.1:p.Asp479=
NM_001033859.3:c.1371C>T	NP_001029031.1:p.Asp457=
NM_001270447.2:c.1506C>T	NP_001257376.1:p.Asp502=
NM_001270448.2:c.1209C>T	NP_001257377.1:p.Asp403=