Canonical Allele Identifier: CA397725706

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127991A>G (hg19) ; chr17:g.7224672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224672A>G , CM000679.2:g.7224672A>G	GRCh38
NC_000017.10:g.7127991A>G , CM000679.1:g.7127991A>G	GRCh37
NC_000017.9:g.7068715A>G	NCBI36
NG_007975.1:g.9839A>G
NG_008391.2:g.379T>C
NG_033038.1:g.14873T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1709A>G MANE Select	ENSP00000349297.5:p.Asp570Gly
ENST00000322910.9:c.*1664A>G	ENSP00000325395.5:n.*1664A>G
ENST00000350303.9:c.1643A>G	ENSP00000344152.5:p.Asp548Gly
ENST00000356839.9:c.1709A>G	ENSP00000349297.5:p.Asp570Gly
ENST00000542255.6:c.537-43A>G
ENST00000543245.6:c.1778A>G	ENSP00000438689.2:p.Asp593Gly
ENST00000578033.1:n.40A>G
ENST00000578319.5:n.290A>G
ENST00000578711.1:n.1168A>G
ENST00000578809.5:n.281A>G
ENST00000579425.5:n.825A>G
ENST00000579546.1:c.444A>G
ENST00000583074.5:n.300-43A>G
ENST00000583848.5:c.75A>G	ENSP00000466487.1:p.Arg25=
ENST00000583850.5:n.480A>G
ENST00000583858.5:c.640A>G
ENST00000585203.6:n.900A>G
NM_000018.3:c.1709A>G	NP_000009.1:p.Asp570Gly
NM_001033859.2:c.1643A>G	NP_001029031.1:p.Asp548Gly
NM_001270447.1:c.1778A>G	NP_001257376.1:p.Asp593Gly
NM_001270448.1:c.1481A>G	NP_001257377.1:p.Asp494Gly
XM_006721516.2:c.1679-43A>G	XP_006721579.2:n.1679-43A>G
XM_011523829.1:c.1577-43A>G	XP_011522131.1:n.1577-43A>G
XM_011523830.1:c.1607A>G	XP_011522132.1:p.Asp536Gly
XR_934021.1:n.1812A>G
XR_934022.1:n.1718A>G
XR_934023.1:n.1688-43A>G
XM_006721516.3:c.1679-43A>G	XP_006721579.2:n.1679-43A>G
XM_011523829.2:c.1577-43A>G	XP_011522131.1:n.1577-43A>G
XM_011523830.2:c.1607A>G	XP_011522132.1:p.Asp536Gly
XM_024450741.1:c.1697A>G	XP_024306509.1:p.Asp566Gly
XR_934021.2:n.1764A>G
XR_934022.2:n.1670A>G
XR_934023.2:n.1640-43A>G
NM_000018.4:c.1709A>G MANE Select	NP_000009.1:p.Asp570Gly
NM_001033859.3:c.1643A>G	NP_001029031.1:p.Asp548Gly
NM_001270447.2:c.1778A>G	NP_001257376.1:p.Asp593Gly
NM_001270448.2:c.1481A>G	NP_001257377.1:p.Asp494Gly