Canonical Allele Identifier: CA397725702

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224671-G-A
• MyVariant Identifiers: chr17:g.7127990G>A (hg19) ; chr17:g.7224671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224671G>A , CM000679.2:g.7224671G>A	GRCh38
NC_000017.10:g.7127990G>A , CM000679.1:g.7127990G>A	GRCh37
NC_000017.9:g.7068714G>A	NCBI36
NG_007975.1:g.9838G>A
NG_008391.2:g.380C>T
NG_033038.1:g.14874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1708G>A MANE Select	ENSP00000349297.5:p.Asp570Asn
ENST00000322910.9:c.*1663G>A	ENSP00000325395.5:n.*1663G>A
ENST00000350303.9:c.1642G>A	ENSP00000344152.5:p.Asp548Asn
ENST00000356839.9:c.1708G>A	ENSP00000349297.5:p.Asp570Asn
ENST00000542255.6:c.537-44G>A
ENST00000543245.6:c.1777G>A	ENSP00000438689.2:p.Asp593Asn
ENST00000578033.1:n.39G>A
ENST00000578319.5:n.289G>A
ENST00000578711.1:n.1167G>A
ENST00000578809.5:n.280G>A
ENST00000579425.5:n.824G>A
ENST00000579546.1:c.443G>A
ENST00000583074.5:n.300-44G>A
ENST00000583848.5:c.74G>A	ENSP00000466487.1:p.Arg25Lys
ENST00000583850.5:n.479G>A
ENST00000583858.5:c.639G>A
ENST00000585203.6:n.899G>A
NM_000018.3:c.1708G>A	NP_000009.1:p.Asp570Asn
NM_001033859.2:c.1642G>A	NP_001029031.1:p.Asp548Asn
NM_001270447.1:c.1777G>A	NP_001257376.1:p.Asp593Asn
NM_001270448.1:c.1480G>A	NP_001257377.1:p.Asp494Asn
XM_006721516.2:c.1679-44G>A	XP_006721579.2:n.1679-44G>A
XM_011523829.1:c.1577-44G>A	XP_011522131.1:n.1577-44G>A
XM_011523830.1:c.1606G>A	XP_011522132.1:p.Asp536Asn
XR_934021.1:n.1811G>A
XR_934022.1:n.1717G>A
XR_934023.1:n.1688-44G>A
XM_006721516.3:c.1679-44G>A	XP_006721579.2:n.1679-44G>A
XM_011523829.2:c.1577-44G>A	XP_011522131.1:n.1577-44G>A
XM_011523830.2:c.1606G>A	XP_011522132.1:p.Asp536Asn
XM_024450741.1:c.1696G>A	XP_024306509.1:p.Asp566Asn
XR_934021.2:n.1763G>A
XR_934022.2:n.1669G>A
XR_934023.2:n.1640-44G>A
NM_000018.4:c.1708G>A MANE Select	NP_000009.1:p.Asp570Asn
NM_001033859.3:c.1642G>A	NP_001029031.1:p.Asp548Asn
NM_001270447.2:c.1777G>A	NP_001257376.1:p.Asp593Asn
NM_001270448.2:c.1480G>A	NP_001257377.1:p.Asp494Asn