Canonical Allele Identifier: CA8338263

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224814C>G , CM000679.2:g.7224814C>G	GRCh38
NC_000017.10:g.7128133C>G , CM000679.1:g.7128133C>G	GRCh37
NC_000017.9:g.7068857C>G	NCBI36
NG_007975.1:g.9981C>G
NG_008391.2:g.237G>C
NG_033038.1:g.14731G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1757C>G MANE Select	NP_000009.1:p.Ser586Ter
ENST00000356839.10:c.1757C>G MANE Select	ENSP00000349297.5:p.Ser586Ter
NM_000018.3:c.1757C>G	NP_000009.1:p.Ser586Ter
NM_001033859.2:c.1691C>G	NP_001029031.1:p.Ser564Ter
NM_001033859.3:c.1691C>G	NP_001029031.1:p.Ser564Ter
NM_001270447.1:c.1826C>G	NP_001257376.1:p.Ser609Ter
NM_001270447.2:c.1826C>G	NP_001257376.1:p.Ser609Ter
NM_001270448.1:c.1529C>G	NP_001257377.1:p.Ser510Ter
NM_001270448.2:c.1529C>G	NP_001257377.1:p.Ser510Ter
ENST00000322910.9:c.*1712C>G	ENSP00000325395.5:n.*1712C>G
ENST00000350303.9:c.1691C>G	ENSP00000344152.5:p.Ser564Ter
ENST00000356839.9:c.1757C>G	ENSP00000349297.5:p.Ser586Ter
ENST00000542255.6:c.636C>G
ENST00000543245.6:c.1826C>G	ENSP00000438689.2:p.Ser609Ter
ENST00000578033.1:n.182C>G
ENST00000578319.5:n.338C>G
ENST00000578711.1:n.1310C>G
ENST00000578809.5:n.329C>G
ENST00000579425.5:n.873C>G
ENST00000579546.1:c.492C>G
ENST00000583074.5:n.399C>G
ENST00000583848.5:c.123C>G	ENSP00000466487.1:p.Leu41=
ENST00000583850.5:n.528C>G
ENST00000583858.5:c.688C>G
XM_006721516.2:c.1778C>G	XP_006721579.2:p.Ser593Ter
XM_006721516.3:c.1778C>G	XP_006721579.2:p.Ser593Ter
XM_011523829.1:c.1676C>G	XP_011522131.1:p.Ser559Ter
XM_011523829.2:c.1676C>G	XP_011522131.1:p.Ser559Ter
XM_011523830.1:c.1655C>G	XP_011522132.1:p.Ser552Ter
XM_011523830.2:c.1655C>G	XP_011522132.1:p.Ser552Ter
XM_024450741.1:c.1745C>G	XP_024306509.1:p.Ser582Ter
XR_934021.1:n.1860C>G
XR_934021.2:n.1812C>G
XR_934022.1:n.1766C>G
XR_934022.2:n.1718C>G
XR_934023.1:n.1787C>G
XR_934023.2:n.1739C>G