Canonical Allele Identifier: CA397725462

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127709G>T (hg19) ; chr17:g.7224390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224390G>T , CM000679.2:g.7224390G>T	GRCh38
NC_000017.10:g.7127709G>T , CM000679.1:g.7127709G>T	GRCh37
NC_000017.9:g.7068433G>T	NCBI36
NG_007975.1:g.9557G>T
NG_008391.2:g.661C>A
NG_033038.1:g.15155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1602G>T MANE Select	ENSP00000349297.5:p.Glu534Asp
ENST00000322910.9:c.*1557G>T	ENSP00000325395.5:n.*1557G>T
ENST00000350303.9:c.1536G>T	ENSP00000344152.5:p.Glu512Asp
ENST00000356839.9:c.1602G>T	ENSP00000349297.5:p.Glu534Asp
ENST00000542255.6:c.460G>T
ENST00000543245.6:c.1671G>T	ENSP00000438689.2:p.Glu557Asp
ENST00000578319.5:n.97G>T
ENST00000578711.1:n.886G>T
ENST00000578809.5:n.174G>T
ENST00000579391.1:n.210G>T
ENST00000579425.5:n.718G>T
ENST00000579546.1:c.341G>T
ENST00000579894.5:n.389G>T
ENST00000582450.1:n.110G>T
ENST00000583074.5:n.223G>T
ENST00000583850.5:n.377G>T
ENST00000583858.5:c.533G>T
ENST00000585203.6:n.793G>T
NM_000018.3:c.1602G>T	NP_000009.1:p.Glu534Asp
NM_001033859.2:c.1536G>T	NP_001029031.1:p.Glu512Asp
NM_001270447.1:c.1671G>T	NP_001257376.1:p.Glu557Asp
NM_001270448.1:c.1374G>T	NP_001257377.1:p.Glu458Asp
XM_006721516.2:c.1602G>T	XP_006721579.2:p.Glu534Asp
XM_011523829.1:c.1504G>T	XP_011522131.1:p.Ala502Ser
XM_011523830.1:c.1504G>T	XP_011522132.1:p.Ala502Ser
XR_934021.1:n.1709G>T
XR_934022.1:n.1611G>T
XR_934023.1:n.1611G>T
XM_006721516.3:c.1602G>T	XP_006721579.2:p.Glu534Asp
XM_011523829.2:c.1504G>T	XP_011522131.1:p.Ala502Ser
XM_011523830.2:c.1504G>T	XP_011522132.1:p.Ala502Ser
XM_024450741.1:c.1504G>T	XP_024306509.1:p.Ala502Ser
XR_934021.2:n.1661G>T
XR_934022.2:n.1563G>T
XR_934023.2:n.1563G>T
NM_000018.4:c.1602G>T MANE Select	NP_000009.1:p.Glu534Asp
NM_001033859.3:c.1536G>T	NP_001029031.1:p.Glu512Asp
NM_001270447.2:c.1671G>T	NP_001257376.1:p.Glu557Asp
NM_001270448.2:c.1374G>T	NP_001257377.1:p.Glu458Asp