Canonical Allele Identifier: CA497694259
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127515T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224196T>C , CM000679.2:g.7224196T>C GRCh38
NC_000017.10:g.7127515T>C , CM000679.1:g.7127515T>C GRCh37
NC_000017.9:g.7068239T>C NCBI36
NG_007975.1:g.9363T>C
NG_008391.2:g.855A>G
NG_033038.1:g.15349A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1485T>C MANE Select ENSP00000349297.5:p.Phe495=
ENST00000322910.9:c.*1440T>C ENSP00000325395.5:n.*1440T>C
ENST00000350303.9:c.1419T>C ENSP00000344152.5:p.Phe473=
ENST00000356839.9:c.1485T>C ENSP00000349297.5:p.Phe495=
ENST00000542255.6:c.343T>C
ENST00000543245.6:c.1554T>C ENSP00000438689.2:p.Phe518=
ENST00000578711.1:n.692T>C
ENST00000579391.1:n.93T>C
ENST00000579425.5:n.601T>C
ENST00000579546.1:c.272-125T>C
ENST00000579894.5:n.272T>C
ENST00000583074.5:n.154-125T>C
ENST00000583850.5:n.260T>C
ENST00000583858.5:c.464-125T>C
ENST00000585203.6:n.676T>C
NM_000018.3:c.1485T>C NP_000009.1:p.Phe495=
NM_001033859.2:c.1419T>C NP_001029031.1:p.Phe473=
NM_001270447.1:c.1554T>C NP_001257376.1:p.Phe518=
NM_001270448.1:c.1257T>C NP_001257377.1:p.Phe419=
XM_006721516.2:c.1485T>C XP_006721579.2:p.Phe495=
XM_011523829.1:c.1435-125T>C XP_011522131.1:n.1435-125T>C
XM_011523830.1:c.1435-125T>C XP_011522132.1:n.1435-125T>C
XR_934021.1:n.1592T>C
XR_934022.1:n.1542-125T>C
XR_934023.1:n.1542-125T>C
XM_006721516.3:c.1485T>C XP_006721579.2:p.Phe495=
XM_011523829.2:c.1435-125T>C XP_011522131.1:n.1435-125T>C
XM_011523830.2:c.1435-125T>C XP_011522132.1:n.1435-125T>C
XM_024450741.1:c.1435-125T>C XP_024306509.1:n.1435-125T>C
XR_934021.2:n.1544T>C
XR_934022.2:n.1494-125T>C
XR_934023.2:n.1494-125T>C
NM_000018.4:c.1485T>C MANE Select NP_000009.1:p.Phe495=
NM_001033859.3:c.1419T>C NP_001029031.1:p.Phe473=
NM_001270447.2:c.1554T>C NP_001257376.1:p.Phe518=
NM_001270448.2:c.1257T>C NP_001257377.1:p.Phe419=
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