Canonical Allele Identifier: CA497694099
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127001A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223682A>C , CM000679.2:g.7223682A>C GRCh38
NC_000017.10:g.7127001A>C , CM000679.1:g.7127001A>C GRCh37
NC_000017.9:g.7067725A>C NCBI36
NG_007975.1:g.8849A>C
NG_008391.2:g.1369T>G
NG_033038.1:g.15863T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1221A>C MANE Select ENSP00000349297.5:p.Gly407=
ENST00000322910.9:c.*1176A>C ENSP00000325395.5:n.*1176A>C
ENST00000350303.9:c.1155A>C ENSP00000344152.5:p.Gly385=
ENST00000356839.9:c.1221A>C ENSP00000349297.5:p.Gly407=
ENST00000542255.6:c.79A>C
ENST00000543245.6:c.1290A>C ENSP00000438689.2:p.Gly430=
ENST00000578579.2:n.392A>C
ENST00000578711.1:n.178A>C
ENST00000578824.5:n.637A>C
ENST00000579425.5:n.245A>C
ENST00000579546.1:c.58A>C
ENST00000583858.5:c.250A>C
ENST00000585203.6:n.429A>C
NM_000018.3:c.1221A>C NP_000009.1:p.Gly407=
NM_001033859.2:c.1155A>C NP_001029031.1:p.Gly385=
NM_001270447.1:c.1290A>C NP_001257376.1:p.Gly430=
NM_001270448.1:c.993A>C NP_001257377.1:p.Gly331=
XM_006721516.2:c.1221A>C XP_006721579.2:p.Gly407=
XM_011523829.1:c.1221A>C XP_011522131.1:p.Gly407=
XM_011523830.1:c.1221A>C XP_011522132.1:p.Gly407=
XR_934021.1:n.1328A>C
XR_934022.1:n.1328A>C
XR_934023.1:n.1328A>C
XM_006721516.3:c.1221A>C XP_006721579.2:p.Gly407=
XM_011523829.2:c.1221A>C XP_011522131.1:p.Gly407=
XM_011523830.2:c.1221A>C XP_011522132.1:p.Gly407=
XM_024450741.1:c.1221A>C XP_024306509.1:p.Gly407=
XR_934021.2:n.1280A>C
XR_934022.2:n.1280A>C
XR_934023.2:n.1280A>C
NM_000018.4:c.1221A>C MANE Select NP_000009.1:p.Gly407=
NM_001033859.3:c.1155A>C NP_001029031.1:p.Gly385=
NM_001270447.2:c.1290A>C NP_001257376.1:p.Gly430=
NM_001270448.2:c.993A>C NP_001257377.1:p.Gly331=
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