Canonical Allele Identifier: CA397724572
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126976T>G (hg19) chr17:g.7223657T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223657T>G , CM000679.2:g.7223657T>G GRCh38
NC_000017.10:g.7126976T>G , CM000679.1:g.7126976T>G GRCh37
NC_000017.9:g.7067700T>G NCBI36
NG_007975.1:g.8824T>G
NG_008391.2:g.1394A>C
NG_033038.1:g.15888A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1196T>G MANE Select ENSP00000349297.5:p.Met399Arg
ENST00000322910.9:c.*1151T>G ENSP00000325395.5:n.*1151T>G
ENST00000350303.9:c.1130T>G ENSP00000344152.5:p.Met377Arg
ENST00000356839.9:c.1196T>G ENSP00000349297.5:p.Met399Arg
ENST00000542255.6:c.54T>G
ENST00000543245.6:c.1265T>G ENSP00000438689.2:p.Met422Arg
ENST00000578579.2:n.367T>G
ENST00000578711.1:n.153T>G
ENST00000578824.5:n.612T>G
ENST00000579425.5:n.220T>G
ENST00000579546.1:c.33T>G
ENST00000583858.5:c.225T>G
ENST00000585203.6:n.404T>G
NM_000018.3:c.1196T>G NP_000009.1:p.Met399Arg
NM_001033859.2:c.1130T>G NP_001029031.1:p.Met377Arg
NM_001270447.1:c.1265T>G NP_001257376.1:p.Met422Arg
NM_001270448.1:c.968T>G NP_001257377.1:p.Met323Arg
XM_006721516.2:c.1196T>G XP_006721579.2:p.Met399Arg
XM_011523829.1:c.1196T>G XP_011522131.1:p.Met399Arg
XM_011523830.1:c.1196T>G XP_011522132.1:p.Met399Arg
XR_934021.1:n.1303T>G
XR_934022.1:n.1303T>G
XR_934023.1:n.1303T>G
XM_006721516.3:c.1196T>G XP_006721579.2:p.Met399Arg
XM_011523829.2:c.1196T>G XP_011522131.1:p.Met399Arg
XM_011523830.2:c.1196T>G XP_011522132.1:p.Met399Arg
XM_024450741.1:c.1196T>G XP_024306509.1:p.Met399Arg
XR_934021.2:n.1255T>G
XR_934022.2:n.1255T>G
XR_934023.2:n.1255T>G
NM_000018.4:c.1196T>G MANE Select NP_000009.1:p.Met399Arg
NM_001033859.3:c.1130T>G NP_001029031.1:p.Met377Arg
NM_001270447.2:c.1265T>G NP_001257376.1:p.Met422Arg
NM_001270448.2:c.968T>G NP_001257377.1:p.Met323Arg
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