Canonical Allele Identifier: CA497694297

Gene: ACADVL

Linked Data

• dbSNP Id: rs771471327
• gnomAD v3: 17-7224712-G-C
• gnomAD v4: 17-7224712-G-C
• MyVariant Identifiers: chr17:g.7128031G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224712G>C , CM000679.2:g.7224712G>C	GRCh38
NC_000017.10:g.7128031G>C , CM000679.1:g.7128031G>C	GRCh37
NC_000017.9:g.7068755G>C	NCBI36
NG_007975.1:g.9879G>C
NG_008391.2:g.339C>G
NG_033038.1:g.14833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1749G>C MANE Select	ENSP00000349297.5:p.Ser583=
ENST00000322910.9:c.*1704G>C	ENSP00000325395.5:n.*1704G>C
ENST00000350303.9:c.1683G>C	ENSP00000344152.5:p.Ser561=
ENST00000356839.9:c.1749G>C	ENSP00000349297.5:p.Ser583=
ENST00000542255.6:c.537-3G>C
ENST00000543245.6:c.1818G>C	ENSP00000438689.2:p.Ser606=
ENST00000578033.1:n.80G>C
ENST00000578319.5:n.330G>C
ENST00000578711.1:n.1208G>C
ENST00000578809.5:n.321G>C
ENST00000579425.5:n.865G>C
ENST00000579546.1:c.484G>C
ENST00000583074.5:n.300-3G>C
ENST00000583848.5:c.115G>C	ENSP00000466487.1:p.Glu39Gln
ENST00000583850.5:n.520G>C
ENST00000583858.5:c.680G>C
ENST00000585203.6:n.940G>C
NM_000018.3:c.1749G>C	NP_000009.1:p.Ser583=
NM_001033859.2:c.1683G>C	NP_001029031.1:p.Ser561=
NM_001270447.1:c.1818G>C	NP_001257376.1:p.Ser606=
NM_001270448.1:c.1521G>C	NP_001257377.1:p.Ser507=
XM_006721516.2:c.1679-3G>C	XP_006721579.2:n.1679-3G>C
XM_011523829.1:c.1577-3G>C	XP_011522131.1:n.1577-3G>C
XM_011523830.1:c.1647G>C	XP_011522132.1:p.Ser549=
XR_934021.1:n.1852G>C
XR_934022.1:n.1758G>C
XR_934023.1:n.1688-3G>C
XM_006721516.3:c.1679-3G>C	XP_006721579.2:n.1679-3G>C
XM_011523829.2:c.1577-3G>C	XP_011522131.1:n.1577-3G>C
XM_011523830.2:c.1647G>C	XP_011522132.1:p.Ser549=
XM_024450741.1:c.1737G>C	XP_024306509.1:p.Ser579=
XR_934021.2:n.1804G>C
XR_934022.2:n.1710G>C
XR_934023.2:n.1640-3G>C
NM_000018.4:c.1749G>C MANE Select	NP_000009.1:p.Ser583=
NM_001033859.3:c.1683G>C	NP_001029031.1:p.Ser561=
NM_001270447.2:c.1818G>C	NP_001257376.1:p.Ser606=
NM_001270448.2:c.1521G>C	NP_001257377.1:p.Ser507=