Canonical Allele Identifier: CA397725726

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224683-G-C
• MyVariant Identifiers: chr17:g.7128002G>C (hg19) ; chr17:g.7224683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224683G>C , CM000679.2:g.7224683G>C	GRCh38
NC_000017.10:g.7128002G>C , CM000679.1:g.7128002G>C	GRCh37
NC_000017.9:g.7068726G>C	NCBI36
NG_007975.1:g.9850G>C
NG_008391.2:g.368C>G
NG_033038.1:g.14862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1720G>C MANE Select	ENSP00000349297.5:p.Asp574His
ENST00000322910.9:c.*1675G>C	ENSP00000325395.5:n.*1675G>C
ENST00000350303.9:c.1654G>C	ENSP00000344152.5:p.Asp552His
ENST00000356839.9:c.1720G>C	ENSP00000349297.5:p.Asp574His
ENST00000542255.6:c.537-32G>C
ENST00000543245.6:c.1789G>C	ENSP00000438689.2:p.Asp597His
ENST00000578033.1:n.51G>C
ENST00000578319.5:n.301G>C
ENST00000578711.1:n.1179G>C
ENST00000578809.5:n.292G>C
ENST00000579425.5:n.836G>C
ENST00000579546.1:c.455G>C
ENST00000583074.5:n.300-32G>C
ENST00000583848.5:c.86G>C	ENSP00000466487.1:p.Arg29Pro
ENST00000583850.5:n.491G>C
ENST00000583858.5:c.651G>C
ENST00000585203.6:n.911G>C
NM_000018.3:c.1720G>C	NP_000009.1:p.Asp574His
NM_001033859.2:c.1654G>C	NP_001029031.1:p.Asp552His
NM_001270447.1:c.1789G>C	NP_001257376.1:p.Asp597His
NM_001270448.1:c.1492G>C	NP_001257377.1:p.Asp498His
XM_006721516.2:c.1679-32G>C	XP_006721579.2:n.1679-32G>C
XM_011523829.1:c.1577-32G>C	XP_011522131.1:n.1577-32G>C
XM_011523830.1:c.1618G>C	XP_011522132.1:p.Asp540His
XR_934021.1:n.1823G>C
XR_934022.1:n.1729G>C
XR_934023.1:n.1688-32G>C
XM_006721516.3:c.1679-32G>C	XP_006721579.2:n.1679-32G>C
XM_011523829.2:c.1577-32G>C	XP_011522131.1:n.1577-32G>C
XM_011523830.2:c.1618G>C	XP_011522132.1:p.Asp540His
XM_024450741.1:c.1708G>C	XP_024306509.1:p.Asp570His
XR_934021.2:n.1775G>C
XR_934022.2:n.1681G>C
XR_934023.2:n.1640-32G>C
NM_000018.4:c.1720G>C MANE Select	NP_000009.1:p.Asp574His
NM_001033859.3:c.1654G>C	NP_001029031.1:p.Asp552His
NM_001270447.2:c.1789G>C	NP_001257376.1:p.Asp597His
NM_001270448.2:c.1492G>C	NP_001257377.1:p.Asp498His