Canonical Allele Identifier: CA397724925

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127297T>G (hg19) ; chr17:g.7223978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223978T>G , CM000679.2:g.7223978T>G	GRCh38
NC_000017.10:g.7127297T>G , CM000679.1:g.7127297T>G	GRCh37
NC_000017.9:g.7068021T>G	NCBI36
NG_007975.1:g.9145T>G
NG_008391.2:g.1073A>C
NG_033038.1:g.15567A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1343T>G MANE Select	ENSP00000349297.5:p.Val448Gly
ENST00000322910.9:c.*1298T>G	ENSP00000325395.5:n.*1298T>G
ENST00000350303.9:c.1277T>G	ENSP00000344152.5:p.Val426Gly
ENST00000356839.9:c.1343T>G	ENSP00000349297.5:p.Val448Gly
ENST00000542255.6:c.201T>G
ENST00000543245.6:c.1412T>G	ENSP00000438689.2:p.Val471Gly
ENST00000578711.1:n.474T>G
ENST00000579425.5:n.459T>G
ENST00000579546.1:c.180T>G
ENST00000579894.5:n.54T>G
ENST00000583074.5:n.62T>G
ENST00000583850.5:n.118T>G
ENST00000583858.5:c.372T>G
ENST00000585203.6:n.534T>G
NM_000018.3:c.1343T>G	NP_000009.1:p.Val448Gly
NM_001033859.2:c.1277T>G	NP_001029031.1:p.Val426Gly
NM_001270447.1:c.1412T>G	NP_001257376.1:p.Val471Gly
NM_001270448.1:c.1115T>G	NP_001257377.1:p.Val372Gly
XM_006721516.2:c.1343T>G	XP_006721579.2:p.Val448Gly
XM_011523829.1:c.1343T>G	XP_011522131.1:p.Val448Gly
XM_011523830.1:c.1343T>G	XP_011522132.1:p.Val448Gly
XR_934021.1:n.1450T>G
XR_934022.1:n.1450T>G
XR_934023.1:n.1450T>G
XM_006721516.3:c.1343T>G	XP_006721579.2:p.Val448Gly
XM_011523829.2:c.1343T>G	XP_011522131.1:p.Val448Gly
XM_011523830.2:c.1343T>G	XP_011522132.1:p.Val448Gly
XM_024450741.1:c.1343T>G	XP_024306509.1:p.Val448Gly
XR_934021.2:n.1402T>G
XR_934022.2:n.1402T>G
XR_934023.2:n.1402T>G
NM_000018.4:c.1343T>G MANE Select	NP_000009.1:p.Val448Gly
NM_001033859.3:c.1277T>G	NP_001029031.1:p.Val426Gly
NM_001270447.2:c.1412T>G	NP_001257376.1:p.Val471Gly
NM_001270448.2:c.1115T>G	NP_001257377.1:p.Val372Gly