Canonical Allele Identifier: CA497694157

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1596847
• ClinVar RCV Id: RCV002113533
• dbSNP Id: rs2142986089
• gnomAD v4: 17-7224033-C-T
• MyVariant Identifiers: chr17:g.7127352C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224033C>T , CM000679.2:g.7224033C>T	GRCh38
NC_000017.10:g.7127352C>T , CM000679.1:g.7127352C>T	GRCh37
NC_000017.9:g.7068076C>T	NCBI36
NG_007975.1:g.9200C>T
NG_008391.2:g.1018G>A
NG_033038.1:g.15512G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1398C>T MANE Select	ENSP00000349297.5:p.Asp466=
ENST00000322910.9:c.*1353C>T	ENSP00000325395.5:n.*1353C>T
ENST00000350303.9:c.1332C>T	ENSP00000344152.5:p.Asp444=
ENST00000356839.9:c.1398C>T	ENSP00000349297.5:p.Asp466=
ENST00000542255.6:c.256C>T
ENST00000543245.6:c.1467C>T	ENSP00000438689.2:p.Asp489=
ENST00000578711.1:n.529C>T
ENST00000579425.5:n.514C>T
ENST00000579546.1:c.235C>T
ENST00000579894.5:n.109C>T
ENST00000583074.5:n.117C>T
ENST00000583850.5:n.173C>T
ENST00000583858.5:c.427C>T
ENST00000585203.6:n.589C>T
NM_000018.3:c.1398C>T	NP_000009.1:p.Asp466=
NM_001033859.2:c.1332C>T	NP_001029031.1:p.Asp444=
NM_001270447.1:c.1467C>T	NP_001257376.1:p.Asp489=
NM_001270448.1:c.1170C>T	NP_001257377.1:p.Asp390=
XM_006721516.2:c.1398C>T	XP_006721579.2:p.Asp466=
XM_011523829.1:c.1398C>T	XP_011522131.1:p.Asp466=
XM_011523830.1:c.1398C>T	XP_011522132.1:p.Asp466=
XR_934021.1:n.1505C>T
XR_934022.1:n.1505C>T
XR_934023.1:n.1505C>T
XM_006721516.3:c.1398C>T	XP_006721579.2:p.Asp466=
XM_011523829.2:c.1398C>T	XP_011522131.1:p.Asp466=
XM_011523830.2:c.1398C>T	XP_011522132.1:p.Asp466=
XM_024450741.1:c.1398C>T	XP_024306509.1:p.Asp466=
XR_934021.2:n.1457C>T
XR_934022.2:n.1457C>T
XR_934023.2:n.1457C>T
NM_000018.4:c.1398C>T MANE Select	NP_000009.1:p.Asp466=
NM_001033859.3:c.1332C>T	NP_001029031.1:p.Asp444=
NM_001270447.2:c.1467C>T	NP_001257376.1:p.Asp489=
NM_001270448.2:c.1170C>T	NP_001257377.1:p.Asp390=