Canonical Allele Identifier: CA497694145
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127049G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223730G>C , CM000679.2:g.7223730G>C GRCh38
NC_000017.10:g.7127049G>C , CM000679.1:g.7127049G>C GRCh37
NC_000017.9:g.7067773G>C NCBI36
NG_007975.1:g.8897G>C
NG_008391.2:g.1321C>G
NG_033038.1:g.15815C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1269G>C MANE Select ENSP00000349297.5:p.Ser423=
ENST00000322910.9:c.*1224G>C ENSP00000325395.5:n.*1224G>C
ENST00000350303.9:c.1203G>C ENSP00000344152.5:p.Ser401=
ENST00000356839.9:c.1269G>C ENSP00000349297.5:p.Ser423=
ENST00000542255.6:c.127G>C
ENST00000543245.6:c.1338G>C ENSP00000438689.2:p.Ser446=
ENST00000578579.2:n.440G>C
ENST00000578711.1:n.226G>C
ENST00000578824.5:n.685G>C
ENST00000579425.5:n.293G>C
ENST00000579546.1:c.106G>C
ENST00000583850.5:n.44G>C
ENST00000583858.5:c.298G>C
ENST00000585203.6:n.477G>C
NM_000018.3:c.1269G>C NP_000009.1:p.Ser423=
NM_001033859.2:c.1203G>C NP_001029031.1:p.Ser401=
NM_001270447.1:c.1338G>C NP_001257376.1:p.Ser446=
NM_001270448.1:c.1041G>C NP_001257377.1:p.Ser347=
XM_006721516.2:c.1269G>C XP_006721579.2:p.Ser423=
XM_011523829.1:c.1269G>C XP_011522131.1:p.Ser423=
XM_011523830.1:c.1269G>C XP_011522132.1:p.Ser423=
XR_934021.1:n.1376G>C
XR_934022.1:n.1376G>C
XR_934023.1:n.1376G>C
XM_006721516.3:c.1269G>C XP_006721579.2:p.Ser423=
XM_011523829.2:c.1269G>C XP_011522131.1:p.Ser423=
XM_011523830.2:c.1269G>C XP_011522132.1:p.Ser423=
XM_024450741.1:c.1269G>C XP_024306509.1:p.Ser423=
XR_934021.2:n.1328G>C
XR_934022.2:n.1328G>C
XR_934023.2:n.1328G>C
NM_000018.4:c.1269G>C MANE Select NP_000009.1:p.Ser423=
NM_001033859.3:c.1203G>C NP_001029031.1:p.Ser401=
NM_001270447.2:c.1338G>C NP_001257376.1:p.Ser446=
NM_001270448.2:c.1041G>C NP_001257377.1:p.Ser347=
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