Canonical Allele Identifier: CA397723190

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124951T>A (hg19) ; chr17:g.7221632T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221632T>A , CM000679.2:g.7221632T>A	GRCh38
NC_000017.10:g.7124951T>A , CM000679.1:g.7124951T>A	GRCh37
NC_000017.9:g.7065675T>A	NCBI36
NG_007975.1:g.6799T>A
NG_008391.2:g.3419A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.572T>A MANE Select	ENSP00000349297.5:p.Leu191His
ENST00000322910.9:c.*527T>A	ENSP00000325395.5:n.*527T>A
ENST00000350303.9:c.506T>A	ENSP00000344152.5:p.Leu169His
ENST00000356839.9:c.572T>A	ENSP00000349297.5:p.Leu191His
ENST00000543245.6:c.641T>A	ENSP00000438689.2:p.Leu214His
ENST00000577191.5:n.649T>A
ENST00000577433.5:n.780T>A
ENST00000577857.5:n.388T>A
ENST00000579286.5:n.753T>A
ENST00000579886.2:c.410T>A	ENSP00000463246.1:p.Leu137His
ENST00000580365.1:n.303T>A
ENST00000581378.5:c.290T>A
ENST00000581562.5:n.525-320T>A
ENST00000583312.5:c.572T>A	ENSP00000467920.1:p.Leu191His
ENST00000583760.1:n.354T>A
NM_000018.3:c.572T>A	NP_000009.1:p.Leu191His
NM_001033859.2:c.506T>A	NP_001029031.1:p.Leu169His
NM_001270447.1:c.641T>A	NP_001257376.1:p.Leu214His
NM_001270448.1:c.344T>A	NP_001257377.1:p.Leu115His
XM_006721516.2:c.572T>A	XP_006721579.2:p.Leu191His
XM_011523829.1:c.572T>A	XP_011522131.1:p.Leu191His
XM_011523830.1:c.572T>A	XP_011522132.1:p.Leu191His
XR_934021.1:n.679T>A
XR_934022.1:n.679T>A
XR_934023.1:n.679T>A
XM_006721516.3:c.572T>A	XP_006721579.2:p.Leu191His
XM_011523829.2:c.572T>A	XP_011522131.1:p.Leu191His
XM_011523830.2:c.572T>A	XP_011522132.1:p.Leu191His
XM_024450741.1:c.572T>A	XP_024306509.1:p.Leu191His
XR_934021.2:n.631T>A
XR_934022.2:n.631T>A
XR_934023.2:n.631T>A
NM_000018.4:c.572T>A MANE Select	NP_000009.1:p.Leu191His
NM_001033859.3:c.506T>A	NP_001029031.1:p.Leu169His
NM_001270447.2:c.641T>A	NP_001257376.1:p.Leu214His
NM_001270448.2:c.344T>A	NP_001257377.1:p.Leu115His