Canonical Allele Identifier: CA397725693

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127985T>A (hg19) ; chr17:g.7224666T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224666T>A , CM000679.2:g.7224666T>A	GRCh38
NC_000017.10:g.7127985T>A , CM000679.1:g.7127985T>A	GRCh37
NC_000017.9:g.7068709T>A	NCBI36
NG_007975.1:g.9833T>A
NG_008391.2:g.385A>T
NG_033038.1:g.14879A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1703T>A MANE Select	ENSP00000349297.5:p.Leu568Gln
ENST00000322910.9:c.*1658T>A	ENSP00000325395.5:n.*1658T>A
ENST00000350303.9:c.1637T>A	ENSP00000344152.5:p.Leu546Gln
ENST00000356839.9:c.1703T>A	ENSP00000349297.5:p.Leu568Gln
ENST00000542255.6:c.537-49T>A
ENST00000543245.6:c.1772T>A	ENSP00000438689.2:p.Leu591Gln
ENST00000578033.1:n.34T>A
ENST00000578319.5:n.284T>A
ENST00000578711.1:n.1162T>A
ENST00000578809.5:n.275T>A
ENST00000579425.5:n.819T>A
ENST00000579546.1:c.438T>A
ENST00000583074.5:n.300-49T>A
ENST00000583848.5:c.69T>A	ENSP00000466487.1:p.Ala23=
ENST00000583850.5:n.474T>A
ENST00000583858.5:c.634T>A
ENST00000585203.6:n.894T>A
NM_000018.3:c.1703T>A	NP_000009.1:p.Leu568Gln
NM_001033859.2:c.1637T>A	NP_001029031.1:p.Leu546Gln
NM_001270447.1:c.1772T>A	NP_001257376.1:p.Leu591Gln
NM_001270448.1:c.1475T>A	NP_001257377.1:p.Leu492Gln
XM_006721516.2:c.1679-49T>A	XP_006721579.2:n.1679-49T>A
XM_011523829.1:c.1577-49T>A	XP_011522131.1:n.1577-49T>A
XM_011523830.1:c.1601T>A	XP_011522132.1:p.Leu534Gln
XR_934021.1:n.1806T>A
XR_934022.1:n.1712T>A
XR_934023.1:n.1688-49T>A
XM_006721516.3:c.1679-49T>A	XP_006721579.2:n.1679-49T>A
XM_011523829.2:c.1577-49T>A	XP_011522131.1:n.1577-49T>A
XM_011523830.2:c.1601T>A	XP_011522132.1:p.Leu534Gln
XM_024450741.1:c.1691T>A	XP_024306509.1:p.Leu564Gln
XR_934021.2:n.1758T>A
XR_934022.2:n.1664T>A
XR_934023.2:n.1640-49T>A
NM_000018.4:c.1703T>A MANE Select	NP_000009.1:p.Leu568Gln
NM_001033859.3:c.1637T>A	NP_001029031.1:p.Leu546Gln
NM_001270447.2:c.1772T>A	NP_001257376.1:p.Leu591Gln
NM_001270448.2:c.1475T>A	NP_001257377.1:p.Leu492Gln