Canonical Allele Identifier: CA497693756

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124922T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221603T>C , CM000679.2:g.7221603T>C	GRCh38
NC_000017.10:g.7124922T>C , CM000679.1:g.7124922T>C	GRCh37
NC_000017.9:g.7065646T>C	NCBI36
NG_007975.1:g.6770T>C
NG_008391.2:g.3448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.543T>C MANE Select	ENSP00000349297.5:p.His181=
ENST00000322910.9:c.*498T>C	ENSP00000325395.5:n.*498T>C
ENST00000350303.9:c.477T>C	ENSP00000344152.5:p.His159=
ENST00000356839.9:c.543T>C	ENSP00000349297.5:p.His181=
ENST00000543245.6:c.612T>C	ENSP00000438689.2:p.His204=
ENST00000577191.5:n.620T>C
ENST00000577433.5:n.751T>C
ENST00000577857.5:n.359T>C
ENST00000579286.5:n.724T>C
ENST00000579886.2:c.381T>C	ENSP00000463246.1:p.His127=
ENST00000580365.1:n.274T>C
ENST00000581378.5:c.261T>C
ENST00000581562.5:n.525-349T>C
ENST00000582166.1:n.524T>C
ENST00000583312.5:c.543T>C	ENSP00000467920.1:p.His181=
ENST00000583760.1:n.325T>C
NM_000018.3:c.543T>C	NP_000009.1:p.His181=
NM_001033859.2:c.477T>C	NP_001029031.1:p.His159=
NM_001270447.1:c.612T>C	NP_001257376.1:p.His204=
NM_001270448.1:c.315T>C	NP_001257377.1:p.His105=
XM_006721516.2:c.543T>C	XP_006721579.2:p.His181=
XM_011523829.1:c.543T>C	XP_011522131.1:p.His181=
XM_011523830.1:c.543T>C	XP_011522132.1:p.His181=
XR_934021.1:n.650T>C
XR_934022.1:n.650T>C
XR_934023.1:n.650T>C
XM_006721516.3:c.543T>C	XP_006721579.2:p.His181=
XM_011523829.2:c.543T>C	XP_011522131.1:p.His181=
XM_011523830.2:c.543T>C	XP_011522132.1:p.His181=
XM_024450741.1:c.543T>C	XP_024306509.1:p.His181=
XR_934021.2:n.602T>C
XR_934022.2:n.602T>C
XR_934023.2:n.602T>C
NM_000018.4:c.543T>C MANE Select	NP_000009.1:p.His181=
NM_001033859.3:c.477T>C	NP_001029031.1:p.His159=
NM_001270447.2:c.612T>C	NP_001257376.1:p.His204=
NM_001270448.2:c.315T>C	NP_001257377.1:p.His105=