Canonical Allele Identifier: CA397723189

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124950C>T (hg19) ; chr17:g.7221631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221631C>T , CM000679.2:g.7221631C>T	GRCh38
NC_000017.10:g.7124950C>T , CM000679.1:g.7124950C>T	GRCh37
NC_000017.9:g.7065674C>T	NCBI36
NG_007975.1:g.6798C>T
NG_008391.2:g.3420G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.571C>T MANE Select	ENSP00000349297.5:p.Leu191Phe
ENST00000322910.9:c.*526C>T	ENSP00000325395.5:n.*526C>T
ENST00000350303.9:c.505C>T	ENSP00000344152.5:p.Leu169Phe
ENST00000356839.9:c.571C>T	ENSP00000349297.5:p.Leu191Phe
ENST00000543245.6:c.640C>T	ENSP00000438689.2:p.Leu214Phe
ENST00000577191.5:n.648C>T
ENST00000577433.5:n.779C>T
ENST00000577857.5:n.387C>T
ENST00000579286.5:n.752C>T
ENST00000579886.2:c.409C>T	ENSP00000463246.1:p.Leu137Phe
ENST00000580365.1:n.302C>T
ENST00000581378.5:c.289C>T
ENST00000581562.5:n.525-321C>T
ENST00000583312.5:c.571C>T	ENSP00000467920.1:p.Leu191Phe
ENST00000583760.1:n.353C>T
NM_000018.3:c.571C>T	NP_000009.1:p.Leu191Phe
NM_001033859.2:c.505C>T	NP_001029031.1:p.Leu169Phe
NM_001270447.1:c.640C>T	NP_001257376.1:p.Leu214Phe
NM_001270448.1:c.343C>T	NP_001257377.1:p.Leu115Phe
XM_006721516.2:c.571C>T	XP_006721579.2:p.Leu191Phe
XM_011523829.1:c.571C>T	XP_011522131.1:p.Leu191Phe
XM_011523830.1:c.571C>T	XP_011522132.1:p.Leu191Phe
XR_934021.1:n.678C>T
XR_934022.1:n.678C>T
XR_934023.1:n.678C>T
XM_006721516.3:c.571C>T	XP_006721579.2:p.Leu191Phe
XM_011523829.2:c.571C>T	XP_011522131.1:p.Leu191Phe
XM_011523830.2:c.571C>T	XP_011522132.1:p.Leu191Phe
XM_024450741.1:c.571C>T	XP_024306509.1:p.Leu191Phe
XR_934021.2:n.630C>T
XR_934022.2:n.630C>T
XR_934023.2:n.630C>T
NM_000018.4:c.571C>T MANE Select	NP_000009.1:p.Leu191Phe
NM_001033859.3:c.505C>T	NP_001029031.1:p.Leu169Phe
NM_001270447.2:c.640C>T	NP_001257376.1:p.Leu214Phe
NM_001270448.2:c.343C>T	NP_001257377.1:p.Leu115Phe