Canonical Allele Identifier: CA397724845

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127174G>T (hg19) ; chr17:g.7223855G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223855G>T , CM000679.2:g.7223855G>T	GRCh38
NC_000017.10:g.7127174G>T , CM000679.1:g.7127174G>T	GRCh37
NC_000017.9:g.7067898G>T	NCBI36
NG_007975.1:g.9022G>T
NG_008391.2:g.1196C>A
NG_033038.1:g.15690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1312G>T MANE Select	ENSP00000349297.5:p.Gly438Trp
ENST00000322910.9:c.*1267G>T	ENSP00000325395.5:n.*1267G>T
ENST00000350303.9:c.1246G>T	ENSP00000344152.5:p.Gly416Trp
ENST00000356839.9:c.1312G>T	ENSP00000349297.5:p.Gly438Trp
ENST00000542255.6:c.170G>T
ENST00000543245.6:c.1381G>T	ENSP00000438689.2:p.Gly461Trp
ENST00000578711.1:n.351G>T
ENST00000579425.5:n.336G>T
ENST00000579546.1:c.149G>T
ENST00000583074.5:n.31G>T
ENST00000583850.5:n.87G>T
ENST00000583858.5:c.341G>T
ENST00000585203.6:n.520G>T
NM_000018.3:c.1312G>T	NP_000009.1:p.Gly438Trp
NM_001033859.2:c.1246G>T	NP_001029031.1:p.Gly416Trp
NM_001270447.1:c.1381G>T	NP_001257376.1:p.Gly461Trp
NM_001270448.1:c.1084G>T	NP_001257377.1:p.Gly362Trp
XM_006721516.2:c.1312G>T	XP_006721579.2:p.Gly438Trp
XM_011523829.1:c.1312G>T	XP_011522131.1:p.Gly438Trp
XM_011523830.1:c.1312G>T	XP_011522132.1:p.Gly438Trp
XR_934021.1:n.1419G>T
XR_934022.1:n.1419G>T
XR_934023.1:n.1419G>T
XM_006721516.3:c.1312G>T	XP_006721579.2:p.Gly438Trp
XM_011523829.2:c.1312G>T	XP_011522131.1:p.Gly438Trp
XM_011523830.2:c.1312G>T	XP_011522132.1:p.Gly438Trp
XM_024450741.1:c.1312G>T	XP_024306509.1:p.Gly438Trp
XR_934021.2:n.1371G>T
XR_934022.2:n.1371G>T
XR_934023.2:n.1371G>T
NM_000018.4:c.1312G>T MANE Select	NP_000009.1:p.Gly438Trp
NM_001033859.3:c.1246G>T	NP_001029031.1:p.Gly416Trp
NM_001270447.2:c.1381G>T	NP_001257376.1:p.Gly461Trp
NM_001270448.2:c.1084G>T	NP_001257377.1:p.Gly362Trp