Canonical Allele Identifier: CA397725203
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127505A>G (hg19) chr17:g.7224186A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224186A>G , CM000679.2:g.7224186A>G GRCh38
NC_000017.10:g.7127505A>G , CM000679.1:g.7127505A>G GRCh37
NC_000017.9:g.7068229A>G NCBI36
NG_007975.1:g.9353A>G
NG_008391.2:g.865T>C
NG_033038.1:g.15359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1475A>G MANE Select ENSP00000349297.5:p.Lys492Arg
ENST00000322910.9:c.*1430A>G ENSP00000325395.5:n.*1430A>G
ENST00000350303.9:c.1409A>G ENSP00000344152.5:p.Lys470Arg
ENST00000356839.9:c.1475A>G ENSP00000349297.5:p.Lys492Arg
ENST00000542255.6:c.333A>G
ENST00000543245.6:c.1544A>G ENSP00000438689.2:p.Lys515Arg
ENST00000578711.1:n.682A>G
ENST00000579391.1:n.83A>G
ENST00000579425.5:n.591A>G
ENST00000579546.1:c.271+117A>G
ENST00000579894.5:n.262A>G
ENST00000583074.5:n.153+117A>G
ENST00000583850.5:n.250A>G
ENST00000583858.5:c.463+117A>G
ENST00000585203.6:n.666A>G
NM_000018.3:c.1475A>G NP_000009.1:p.Lys492Arg
NM_001033859.2:c.1409A>G NP_001029031.1:p.Lys470Arg
NM_001270447.1:c.1544A>G NP_001257376.1:p.Lys515Arg
NM_001270448.1:c.1247A>G NP_001257377.1:p.Lys416Arg
XM_006721516.2:c.1475A>G XP_006721579.2:p.Lys492Arg
XM_011523829.1:c.1434+117A>G XP_011522131.1:n.1434+117A>G
XM_011523830.1:c.1434+117A>G XP_011522132.1:n.1434+117A>G
XR_934021.1:n.1582A>G
XR_934022.1:n.1541+117A>G
XR_934023.1:n.1541+117A>G
XM_006721516.3:c.1475A>G XP_006721579.2:p.Lys492Arg
XM_011523829.2:c.1434+117A>G XP_011522131.1:n.1434+117A>G
XM_011523830.2:c.1434+117A>G XP_011522132.1:n.1434+117A>G
XM_024450741.1:c.1434+117A>G XP_024306509.1:n.1434+117A>G
XR_934021.2:n.1534A>G
XR_934022.2:n.1493+117A>G
XR_934023.2:n.1493+117A>G
NM_000018.4:c.1475A>G MANE Select NP_000009.1:p.Lys492Arg
NM_001033859.3:c.1409A>G NP_001029031.1:p.Lys470Arg
NM_001270447.2:c.1544A>G NP_001257376.1:p.Lys515Arg
NM_001270448.2:c.1247A>G NP_001257377.1:p.Lys416Arg
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