Canonical Allele Identifier: CA2245698580

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220630G= , CM000679.2:g.7220630G=	GRCh38
NC_000017.10:g.7123949G= , CM000679.1:g.7123949G=	GRCh37
NC_000017.9:g.7064673G=	NCBI36
NG_007975.1:g.5797G=
NG_008391.2:g.4421C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.231G= MANE Select	ENSP00000349297.5:p.Met77=
ENST00000322910.9:c.*186G=	ENSP00000325395.5:n.*186G=
ENST00000350303.9:c.165G=	ENSP00000344152.5:p.Met55=
ENST00000356839.9:c.231G=	ENSP00000349297.5:p.Met77=
ENST00000543245.6:c.300G=	ENSP00000438689.2:p.Met100=
ENST00000577191.5:n.308G=
ENST00000577433.5:n.439G=
ENST00000577857.5:n.229-136G=
ENST00000578269.5:n.678G=
ENST00000578421.1:n.439G=
ENST00000579286.5:n.412G=
ENST00000579886.2:c.201+104G=	ENSP00000463246.1:n.201+104G=
ENST00000580263.5:n.395G=
ENST00000581562.5:n.278G=
ENST00000582056.5:n.321G=
ENST00000582166.1:n.119G=
ENST00000582356.5:n.430G=
ENST00000583312.5:c.231G=	ENSP00000467920.1:p.Met77=
ENST00000584103.5:c.231G=	ENSP00000465353.1:p.Met77=
NM_000018.3:c.231G=	NP_000009.1:p.Met77=
NM_001033859.2:c.165G=	NP_001029031.1:p.Met55=
NM_001270447.1:c.300G=	NP_001257376.1:p.Met100=
NM_001270448.1:c.3G=	NP_001257377.1:p.Met1=
XM_006721516.2:c.231G=	XP_006721579.2:p.Met77=
XM_011523829.1:c.231G=	XP_011522131.1:p.Met77=
XM_011523830.1:c.231G=	XP_011522132.1:p.Met77=
XR_934021.1:n.338G=
XR_934022.1:n.338G=
XR_934023.1:n.338G=
XM_006721516.3:c.231G=	XP_006721579.2:p.Met77=
XM_011523829.2:c.231G=	XP_011522131.1:p.Met77=
XM_011523830.2:c.231G=	XP_011522132.1:p.Met77=
XM_024450741.1:c.231G=	XP_024306509.1:p.Met77=
XR_934021.2:n.290G=
XR_934022.2:n.290G=
XR_934023.2:n.290G=
NM_000018.4:c.231G= MANE Select	NP_000009.1:p.Met77=
NM_001033859.3:c.165G=	NP_001029031.1:p.Met55=
NM_001270447.2:c.300G=	NP_001257376.1:p.Met100=
NM_001270448.2:c.3G=	NP_001257377.1:p.Met1=