Canonical Allele Identifier: CA497694276
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127807G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224488G>C , CM000679.2:g.7224488G>C GRCh38
NC_000017.10:g.7127807G>C , CM000679.1:g.7127807G>C GRCh37
NC_000017.9:g.7068531G>C NCBI36
NG_007975.1:g.9655G>C
NG_008391.2:g.563C>G
NG_033038.1:g.15057C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1614G>C MANE Select ENSP00000349297.5:p.Arg538=
ENST00000322910.9:c.*1569G>C ENSP00000325395.5:n.*1569G>C
ENST00000350303.9:c.1548G>C ENSP00000344152.5:p.Arg516=
ENST00000356839.9:c.1614G>C ENSP00000349297.5:p.Arg538=
ENST00000542255.6:c.472G>C
ENST00000543245.6:c.1683G>C ENSP00000438689.2:p.Arg561=
ENST00000578319.5:n.195G>C
ENST00000578711.1:n.984G>C
ENST00000578809.5:n.186G>C
ENST00000579391.1:n.218G>C
ENST00000579425.5:n.730G>C
ENST00000579546.1:c.349G>C
ENST00000579894.5:n.401G>C
ENST00000582450.1:n.122G>C
ENST00000583074.5:n.235G>C
ENST00000583850.5:n.385G>C
ENST00000583858.5:c.545G>C
ENST00000585203.6:n.805G>C
NM_000018.3:c.1614G>C NP_000009.1:p.Arg538=
NM_001033859.2:c.1548G>C NP_001029031.1:p.Arg516=
NM_001270447.1:c.1683G>C NP_001257376.1:p.Arg561=
NM_001270448.1:c.1386G>C NP_001257377.1:p.Arg462=
XM_006721516.2:c.1614G>C XP_006721579.2:p.Arg538=
XM_011523829.1:c.1512G>C XP_011522131.1:p.Arg504=
XM_011523830.1:c.1512G>C XP_011522132.1:p.Arg504=
XR_934021.1:n.1717G>C
XR_934022.1:n.1623G>C
XR_934023.1:n.1623G>C
XM_006721516.3:c.1614G>C XP_006721579.2:p.Arg538=
XM_011523829.2:c.1512G>C XP_011522131.1:p.Arg504=
XM_011523830.2:c.1512G>C XP_011522132.1:p.Arg504=
XM_024450741.1:c.1602G>C XP_024306509.1:p.Arg534=
XR_934021.2:n.1669G>C
XR_934022.2:n.1575G>C
XR_934023.2:n.1575G>C
NM_000018.4:c.1614G>C MANE Select NP_000009.1:p.Arg538=
NM_001033859.3:c.1548G>C NP_001029031.1:p.Arg516=
NM_001270447.2:c.1683G>C NP_001257376.1:p.Arg561=
NM_001270448.2:c.1386G>C NP_001257377.1:p.Arg462=
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