Canonical Allele Identifier: CA497620223
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126079T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222760T>G , CM000679.2:g.7222760T>G GRCh38
NC_000017.10:g.7126079T>G , CM000679.1:g.7126079T>G GRCh37
NC_000017.9:g.7066803T>G NCBI36
NG_007975.1:g.7927T>G
NG_008391.2:g.2291A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.972T>G MANE Select ENSP00000349297.5:p.Gly324=
ENST00000322910.9:c.*927T>G ENSP00000325395.5:n.*927T>G
ENST00000350303.9:c.906T>G ENSP00000344152.5:p.Gly302=
ENST00000356839.9:c.972T>G ENSP00000349297.5:p.Gly324=
ENST00000543245.6:c.1041T>G ENSP00000438689.2:p.Gly347=
ENST00000578824.5:n.121T>G
ENST00000581378.5:c.690T>G
ENST00000582379.1:n.356T>G
ENST00000583858.5:c.1T>G
NM_000018.3:c.972T>G NP_000009.1:p.Gly324=
NM_001033859.2:c.906T>G NP_001029031.1:p.Gly302=
NM_001270447.1:c.1041T>G NP_001257376.1:p.Gly347=
NM_001270448.1:c.744T>G NP_001257377.1:p.Gly248=
XM_006721516.2:c.972T>G XP_006721579.2:p.Gly324=
XM_011523829.1:c.972T>G XP_011522131.1:p.Gly324=
XM_011523830.1:c.972T>G XP_011522132.1:p.Gly324=
XR_934021.1:n.1079T>G
XR_934022.1:n.1079T>G
XR_934023.1:n.1079T>G
XM_006721516.3:c.972T>G XP_006721579.2:p.Gly324=
XM_011523829.2:c.972T>G XP_011522131.1:p.Gly324=
XM_011523830.2:c.972T>G XP_011522132.1:p.Gly324=
XM_024450741.1:c.972T>G XP_024306509.1:p.Gly324=
XR_934021.2:n.1031T>G
XR_934022.2:n.1031T>G
XR_934023.2:n.1031T>G
NM_000018.4:c.972T>G MANE Select NP_000009.1:p.Gly324=
NM_001033859.3:c.906T>G NP_001029031.1:p.Gly302=
NM_001270447.2:c.1041T>G NP_001257376.1:p.Gly347=
NM_001270448.2:c.744T>G NP_001257377.1:p.Gly248=
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