Canonical Allele Identifier: CA397725664

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127969T>G (hg19) ; chr17:g.7224650T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224650T>G , CM000679.2:g.7224650T>G	GRCh38
NC_000017.10:g.7127969T>G , CM000679.1:g.7127969T>G	GRCh37
NC_000017.9:g.7068693T>G	NCBI36
NG_007975.1:g.9817T>G
NG_008391.2:g.401A>C
NG_033038.1:g.14895A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1687T>G MANE Select	ENSP00000349297.5:p.Phe563Val
ENST00000322910.9:c.*1642T>G	ENSP00000325395.5:n.*1642T>G
ENST00000350303.9:c.1621T>G	ENSP00000344152.5:p.Phe541Val
ENST00000356839.9:c.1687T>G	ENSP00000349297.5:p.Phe563Val
ENST00000542255.6:c.537-65T>G
ENST00000543245.6:c.1756T>G	ENSP00000438689.2:p.Phe586Val
ENST00000578033.1:n.18T>G
ENST00000578319.5:n.268T>G
ENST00000578711.1:n.1146T>G
ENST00000578809.5:n.259T>G
ENST00000579425.5:n.803T>G
ENST00000579546.1:c.422T>G
ENST00000582450.1:n.284T>G
ENST00000583074.5:n.300-65T>G
ENST00000583848.5:c.65-12T>G	ENSP00000466487.1:n.65-12T>G
ENST00000583850.5:n.458T>G
ENST00000583858.5:c.618T>G
ENST00000585203.6:n.878T>G
NM_000018.3:c.1687T>G	NP_000009.1:p.Phe563Val
NM_001033859.2:c.1621T>G	NP_001029031.1:p.Phe541Val
NM_001270447.1:c.1756T>G	NP_001257376.1:p.Phe586Val
NM_001270448.1:c.1459T>G	NP_001257377.1:p.Phe487Val
XM_006721516.2:c.1679-65T>G	XP_006721579.2:n.1679-65T>G
XM_011523829.1:c.1577-65T>G	XP_011522131.1:n.1577-65T>G
XM_011523830.1:c.1585T>G	XP_011522132.1:p.Phe529Val
XR_934021.1:n.1790T>G
XR_934022.1:n.1696T>G
XR_934023.1:n.1688-65T>G
XM_006721516.3:c.1679-65T>G	XP_006721579.2:n.1679-65T>G
XM_011523829.2:c.1577-65T>G	XP_011522131.1:n.1577-65T>G
XM_011523830.2:c.1585T>G	XP_011522132.1:p.Phe529Val
XM_024450741.1:c.1675T>G	XP_024306509.1:p.Phe559Val
XR_934021.2:n.1742T>G
XR_934022.2:n.1648T>G
XR_934023.2:n.1640-65T>G
NM_000018.4:c.1687T>G MANE Select	NP_000009.1:p.Phe563Val
NM_001033859.3:c.1621T>G	NP_001029031.1:p.Phe541Val
NM_001270447.2:c.1756T>G	NP_001257376.1:p.Phe586Val
NM_001270448.2:c.1459T>G	NP_001257377.1:p.Phe487Val