Canonical Allele Identifier: CA397725747

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128011G>C (hg19) ; chr17:g.7224692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224692G>C , CM000679.2:g.7224692G>C	GRCh38
NC_000017.10:g.7128011G>C , CM000679.1:g.7128011G>C	GRCh37
NC_000017.9:g.7068735G>C	NCBI36
NG_007975.1:g.9859G>C
NG_008391.2:g.359C>G
NG_033038.1:g.14853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1729G>C MANE Select	ENSP00000349297.5:p.Ala577Pro
ENST00000322910.9:c.*1684G>C	ENSP00000325395.5:n.*1684G>C
ENST00000350303.9:c.1663G>C	ENSP00000344152.5:p.Ala555Pro
ENST00000356839.9:c.1729G>C	ENSP00000349297.5:p.Ala577Pro
ENST00000542255.6:c.537-23G>C
ENST00000543245.6:c.1798G>C	ENSP00000438689.2:p.Ala600Pro
ENST00000578033.1:n.60G>C
ENST00000578319.5:n.310G>C
ENST00000578711.1:n.1188G>C
ENST00000578809.5:n.301G>C
ENST00000579425.5:n.845G>C
ENST00000579546.1:c.464G>C
ENST00000583074.5:n.300-23G>C
ENST00000583848.5:c.95G>C	ENSP00000466487.1:p.Cys32Ser
ENST00000583850.5:n.500G>C
ENST00000583858.5:c.660G>C
ENST00000585203.6:n.920G>C
NM_000018.3:c.1729G>C	NP_000009.1:p.Ala577Pro
NM_001033859.2:c.1663G>C	NP_001029031.1:p.Ala555Pro
NM_001270447.1:c.1798G>C	NP_001257376.1:p.Ala600Pro
NM_001270448.1:c.1501G>C	NP_001257377.1:p.Ala501Pro
XM_006721516.2:c.1679-23G>C	XP_006721579.2:n.1679-23G>C
XM_011523829.1:c.1577-23G>C	XP_011522131.1:n.1577-23G>C
XM_011523830.1:c.1627G>C	XP_011522132.1:p.Ala543Pro
XR_934021.1:n.1832G>C
XR_934022.1:n.1738G>C
XR_934023.1:n.1688-23G>C
XM_006721516.3:c.1679-23G>C	XP_006721579.2:n.1679-23G>C
XM_011523829.2:c.1577-23G>C	XP_011522131.1:n.1577-23G>C
XM_011523830.2:c.1627G>C	XP_011522132.1:p.Ala543Pro
XM_024450741.1:c.1717G>C	XP_024306509.1:p.Ala573Pro
XR_934021.2:n.1784G>C
XR_934022.2:n.1690G>C
XR_934023.2:n.1640-23G>C
NM_000018.4:c.1729G>C MANE Select	NP_000009.1:p.Ala577Pro
NM_001033859.3:c.1663G>C	NP_001029031.1:p.Ala555Pro
NM_001270447.2:c.1798G>C	NP_001257376.1:p.Ala600Pro
NM_001270448.2:c.1501G>C	NP_001257377.1:p.Ala501Pro