Canonical Allele Identifier: CA497694240
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs150518187
MyVariant Identifiers: chr17:g.7127503A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224184A>C , CM000679.2:g.7224184A>C GRCh38
NC_000017.10:g.7127503A>C , CM000679.1:g.7127503A>C GRCh37
NC_000017.9:g.7068227A>C NCBI36
NG_007975.1:g.9351A>C
NG_008391.2:g.867T>G
NG_033038.1:g.15361T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1473A>C MANE Select ENSP00000349297.5:p.Leu491=
ENST00000322910.9:c.*1428A>C ENSP00000325395.5:n.*1428A>C
ENST00000350303.9:c.1407A>C ENSP00000344152.5:p.Leu469=
ENST00000356839.9:c.1473A>C ENSP00000349297.5:p.Leu491=
ENST00000542255.6:c.331A>C
ENST00000543245.6:c.1542A>C ENSP00000438689.2:p.Leu514=
ENST00000578711.1:n.680A>C
ENST00000579391.1:n.81A>C
ENST00000579425.5:n.589A>C
ENST00000579546.1:c.271+115A>C
ENST00000579894.5:n.260A>C
ENST00000583074.5:n.153+115A>C
ENST00000583850.5:n.248A>C
ENST00000583858.5:c.463+115A>C
ENST00000585203.6:n.664A>C
NM_000018.3:c.1473A>C NP_000009.1:p.Leu491=
NM_001033859.2:c.1407A>C NP_001029031.1:p.Leu469=
NM_001270447.1:c.1542A>C NP_001257376.1:p.Leu514=
NM_001270448.1:c.1245A>C NP_001257377.1:p.Leu415=
XM_006721516.2:c.1473A>C XP_006721579.2:p.Leu491=
XM_011523829.1:c.1434+115A>C XP_011522131.1:n.1434+115A>C
XM_011523830.1:c.1434+115A>C XP_011522132.1:n.1434+115A>C
XR_934021.1:n.1580A>C
XR_934022.1:n.1541+115A>C
XR_934023.1:n.1541+115A>C
XM_006721516.3:c.1473A>C XP_006721579.2:p.Leu491=
XM_011523829.2:c.1434+115A>C XP_011522131.1:n.1434+115A>C
XM_011523830.2:c.1434+115A>C XP_011522132.1:n.1434+115A>C
XM_024450741.1:c.1434+115A>C XP_024306509.1:n.1434+115A>C
XR_934021.2:n.1532A>C
XR_934022.2:n.1493+115A>C
XR_934023.2:n.1493+115A>C
NM_000018.4:c.1473A>C MANE Select NP_000009.1:p.Leu491=
NM_001033859.3:c.1407A>C NP_001029031.1:p.Leu469=
NM_001270447.2:c.1542A>C NP_001257376.1:p.Leu514=
NM_001270448.2:c.1245A>C NP_001257377.1:p.Leu415=
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