Canonical Allele Identifier: CA397723038

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124878G>T (hg19) ; chr17:g.7221559G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221559G>T , CM000679.2:g.7221559G>T	GRCh38
NC_000017.10:g.7124878G>T , CM000679.1:g.7124878G>T	GRCh37
NC_000017.9:g.7065602G>T	NCBI36
NG_007975.1:g.6726G>T
NG_008391.2:g.3492C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.499G>T MANE Select	ENSP00000349297.5:p.Val167Leu
ENST00000322910.9:c.*454G>T	ENSP00000325395.5:n.*454G>T
ENST00000350303.9:c.433G>T	ENSP00000344152.5:p.Val145Leu
ENST00000356839.9:c.499G>T	ENSP00000349297.5:p.Val167Leu
ENST00000543245.6:c.568G>T	ENSP00000438689.2:p.Val190Leu
ENST00000577191.5:n.576G>T
ENST00000577433.5:n.707G>T
ENST00000577857.5:n.315G>T
ENST00000579286.5:n.680G>T
ENST00000579886.2:c.337G>T	ENSP00000463246.1:p.Val113Leu
ENST00000580365.1:n.230G>T
ENST00000581378.5:c.217G>T
ENST00000581562.5:n.525-393G>T
ENST00000582166.1:n.480G>T
ENST00000583312.5:c.499G>T	ENSP00000467920.1:p.Val167Leu
ENST00000583760.1:n.281G>T
NM_000018.3:c.499G>T	NP_000009.1:p.Val167Leu
NM_001033859.2:c.433G>T	NP_001029031.1:p.Val145Leu
NM_001270447.1:c.568G>T	NP_001257376.1:p.Val190Leu
NM_001270448.1:c.271G>T	NP_001257377.1:p.Val91Leu
XM_006721516.2:c.499G>T	XP_006721579.2:p.Val167Leu
XM_011523829.1:c.499G>T	XP_011522131.1:p.Val167Leu
XM_011523830.1:c.499G>T	XP_011522132.1:p.Val167Leu
XR_934021.1:n.606G>T
XR_934022.1:n.606G>T
XR_934023.1:n.606G>T
XM_006721516.3:c.499G>T	XP_006721579.2:p.Val167Leu
XM_011523829.2:c.499G>T	XP_011522131.1:p.Val167Leu
XM_011523830.2:c.499G>T	XP_011522132.1:p.Val167Leu
XM_024450741.1:c.499G>T	XP_024306509.1:p.Val167Leu
XR_934021.2:n.558G>T
XR_934022.2:n.558G>T
XR_934023.2:n.558G>T
NM_000018.4:c.499G>T MANE Select	NP_000009.1:p.Val167Leu
NM_001033859.3:c.433G>T	NP_001029031.1:p.Val145Leu
NM_001270447.2:c.568G>T	NP_001257376.1:p.Val190Leu
NM_001270448.2:c.271G>T	NP_001257377.1:p.Val91Leu