Canonical Allele Identifier: CA397725737

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128006T>C (hg19) ; chr17:g.7224687T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224687T>C , CM000679.2:g.7224687T>C	GRCh38
NC_000017.10:g.7128006T>C , CM000679.1:g.7128006T>C	GRCh37
NC_000017.9:g.7068730T>C	NCBI36
NG_007975.1:g.9854T>C
NG_008391.2:g.364A>G
NG_033038.1:g.14858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1724T>C MANE Select	ENSP00000349297.5:p.Leu575Pro
ENST00000322910.9:c.*1679T>C	ENSP00000325395.5:n.*1679T>C
ENST00000350303.9:c.1658T>C	ENSP00000344152.5:p.Leu553Pro
ENST00000356839.9:c.1724T>C	ENSP00000349297.5:p.Leu575Pro
ENST00000542255.6:c.537-28T>C
ENST00000543245.6:c.1793T>C	ENSP00000438689.2:p.Leu598Pro
ENST00000578033.1:n.55T>C
ENST00000578319.5:n.305T>C
ENST00000578711.1:n.1183T>C
ENST00000578809.5:n.296T>C
ENST00000579425.5:n.840T>C
ENST00000579546.1:c.459T>C
ENST00000583074.5:n.300-28T>C
ENST00000583848.5:c.90T>C	ENSP00000466487.1:p.Pro30=
ENST00000583850.5:n.495T>C
ENST00000583858.5:c.655T>C
ENST00000585203.6:n.915T>C
NM_000018.3:c.1724T>C	NP_000009.1:p.Leu575Pro
NM_001033859.2:c.1658T>C	NP_001029031.1:p.Leu553Pro
NM_001270447.1:c.1793T>C	NP_001257376.1:p.Leu598Pro
NM_001270448.1:c.1496T>C	NP_001257377.1:p.Leu499Pro
XM_006721516.2:c.1679-28T>C	XP_006721579.2:n.1679-28T>C
XM_011523829.1:c.1577-28T>C	XP_011522131.1:n.1577-28T>C
XM_011523830.1:c.1622T>C	XP_011522132.1:p.Leu541Pro
XR_934021.1:n.1827T>C
XR_934022.1:n.1733T>C
XR_934023.1:n.1688-28T>C
XM_006721516.3:c.1679-28T>C	XP_006721579.2:n.1679-28T>C
XM_011523829.2:c.1577-28T>C	XP_011522131.1:n.1577-28T>C
XM_011523830.2:c.1622T>C	XP_011522132.1:p.Leu541Pro
XM_024450741.1:c.1712T>C	XP_024306509.1:p.Leu571Pro
XR_934021.2:n.1779T>C
XR_934022.2:n.1685T>C
XR_934023.2:n.1640-28T>C
NM_000018.4:c.1724T>C MANE Select	NP_000009.1:p.Leu575Pro
NM_001033859.3:c.1658T>C	NP_001029031.1:p.Leu553Pro
NM_001270447.2:c.1793T>C	NP_001257376.1:p.Leu598Pro
NM_001270448.2:c.1496T>C	NP_001257377.1:p.Leu499Pro