Canonical Allele Identifier: CA497619715

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124901G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221582G>C , CM000679.2:g.7221582G>C	GRCh38
NC_000017.10:g.7124901G>C , CM000679.1:g.7124901G>C	GRCh37
NC_000017.9:g.7065625G>C	NCBI36
NG_007975.1:g.6749G>C
NG_008391.2:g.3469C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.522G>C MANE Select	ENSP00000349297.5:p.Val174=
ENST00000322910.9:c.*477G>C	ENSP00000325395.5:n.*477G>C
ENST00000350303.9:c.456G>C	ENSP00000344152.5:p.Val152=
ENST00000356839.9:c.522G>C	ENSP00000349297.5:p.Val174=
ENST00000543245.6:c.591G>C	ENSP00000438689.2:p.Val197=
ENST00000577191.5:n.599G>C
ENST00000577433.5:n.730G>C
ENST00000577857.5:n.338G>C
ENST00000579286.5:n.703G>C
ENST00000579886.2:c.360G>C	ENSP00000463246.1:p.Val120=
ENST00000580365.1:n.253G>C
ENST00000581378.5:c.240G>C
ENST00000581562.5:n.525-370G>C
ENST00000582166.1:n.503G>C
ENST00000583312.5:c.522G>C	ENSP00000467920.1:p.Val174=
ENST00000583760.1:n.304G>C
NM_000018.3:c.522G>C	NP_000009.1:p.Val174=
NM_001033859.2:c.456G>C	NP_001029031.1:p.Val152=
NM_001270447.1:c.591G>C	NP_001257376.1:p.Val197=
NM_001270448.1:c.294G>C	NP_001257377.1:p.Val98=
XM_006721516.2:c.522G>C	XP_006721579.2:p.Val174=
XM_011523829.1:c.522G>C	XP_011522131.1:p.Val174=
XM_011523830.1:c.522G>C	XP_011522132.1:p.Val174=
XR_934021.1:n.629G>C
XR_934022.1:n.629G>C
XR_934023.1:n.629G>C
XM_006721516.3:c.522G>C	XP_006721579.2:p.Val174=
XM_011523829.2:c.522G>C	XP_011522131.1:p.Val174=
XM_011523830.2:c.522G>C	XP_011522132.1:p.Val174=
XM_024450741.1:c.522G>C	XP_024306509.1:p.Val174=
XR_934021.2:n.581G>C
XR_934022.2:n.581G>C
XR_934023.2:n.581G>C
NM_000018.4:c.522G>C MANE Select	NP_000009.1:p.Val174=
NM_001033859.3:c.456G>C	NP_001029031.1:p.Val152=
NM_001270447.2:c.591G>C	NP_001257376.1:p.Val197=
NM_001270448.2:c.294G>C	NP_001257377.1:p.Val98=