Canonical Allele Identifier: CA397725026
Gene: ACADVL HGNC NCBI

Linked Data

COSMIC: COSM77201
MyVariant Identifiers: chr17:g.7127350G>A (hg19) chr17:g.7224031G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224031G>A , CM000679.2:g.7224031G>A GRCh38
NC_000017.10:g.7127350G>A , CM000679.1:g.7127350G>A GRCh37
NC_000017.9:g.7068074G>A NCBI36
NG_007975.1:g.9198G>A
NG_008391.2:g.1020C>T
NG_033038.1:g.15514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1396G>A MANE Select ENSP00000349297.5:p.Asp466Asn
ENST00000322910.9:c.*1351G>A ENSP00000325395.5:n.*1351G>A
ENST00000350303.9:c.1330G>A ENSP00000344152.5:p.Asp444Asn
ENST00000356839.9:c.1396G>A ENSP00000349297.5:p.Asp466Asn
ENST00000542255.6:c.254G>A
ENST00000543245.6:c.1465G>A ENSP00000438689.2:p.Asp489Asn
ENST00000578711.1:n.527G>A
ENST00000579425.5:n.512G>A
ENST00000579546.1:c.233G>A
ENST00000579894.5:n.107G>A
ENST00000583074.5:n.115G>A
ENST00000583850.5:n.171G>A
ENST00000583858.5:c.425G>A
ENST00000585203.6:n.587G>A
NM_000018.3:c.1396G>A NP_000009.1:p.Asp466Asn
NM_001033859.2:c.1330G>A NP_001029031.1:p.Asp444Asn
NM_001270447.1:c.1465G>A NP_001257376.1:p.Asp489Asn
NM_001270448.1:c.1168G>A NP_001257377.1:p.Asp390Asn
XM_006721516.2:c.1396G>A XP_006721579.2:p.Asp466Asn
XM_011523829.1:c.1396G>A XP_011522131.1:p.Asp466Asn
XM_011523830.1:c.1396G>A XP_011522132.1:p.Asp466Asn
XR_934021.1:n.1503G>A
XR_934022.1:n.1503G>A
XR_934023.1:n.1503G>A
XM_006721516.3:c.1396G>A XP_006721579.2:p.Asp466Asn
XM_011523829.2:c.1396G>A XP_011522131.1:p.Asp466Asn
XM_011523830.2:c.1396G>A XP_011522132.1:p.Asp466Asn
XM_024450741.1:c.1396G>A XP_024306509.1:p.Asp466Asn
XR_934021.2:n.1455G>A
XR_934022.2:n.1455G>A
XR_934023.2:n.1455G>A
NM_000018.4:c.1396G>A MANE Select NP_000009.1:p.Asp466Asn
NM_001033859.3:c.1330G>A NP_001029031.1:p.Asp444Asn
NM_001270447.2:c.1465G>A NP_001257376.1:p.Asp489Asn
NM_001270448.2:c.1168G>A NP_001257377.1:p.Asp390Asn
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