Canonical Allele Identifier: CA397724544
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126964C>G (hg19) chr17:g.7223645C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223645C>G , CM000679.2:g.7223645C>G GRCh38
NC_000017.10:g.7126964C>G , CM000679.1:g.7126964C>G GRCh37
NC_000017.9:g.7067688C>G NCBI36
NG_007975.1:g.8812C>G
NG_008391.2:g.1406G>C
NG_033038.1:g.15900G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1184C>G MANE Select ENSP00000349297.5:p.Ser395Cys
ENST00000322910.9:c.*1139C>G ENSP00000325395.5:n.*1139C>G
ENST00000350303.9:c.1118C>G ENSP00000344152.5:p.Ser373Cys
ENST00000356839.9:c.1184C>G ENSP00000349297.5:p.Ser395Cys
ENST00000542255.6:c.42C>G
ENST00000543245.6:c.1253C>G ENSP00000438689.2:p.Ser418Cys
ENST00000578579.2:n.355C>G
ENST00000578711.1:n.141C>G
ENST00000578824.5:n.600C>G
ENST00000579425.5:n.208C>G
ENST00000579546.1:c.21C>G
ENST00000583858.5:c.213C>G
ENST00000585203.6:n.392C>G
NM_000018.3:c.1184C>G NP_000009.1:p.Ser395Cys
NM_001033859.2:c.1118C>G NP_001029031.1:p.Ser373Cys
NM_001270447.1:c.1253C>G NP_001257376.1:p.Ser418Cys
NM_001270448.1:c.956C>G NP_001257377.1:p.Ser319Cys
XM_006721516.2:c.1184C>G XP_006721579.2:p.Ser395Cys
XM_011523829.1:c.1184C>G XP_011522131.1:p.Ser395Cys
XM_011523830.1:c.1184C>G XP_011522132.1:p.Ser395Cys
XR_934021.1:n.1291C>G
XR_934022.1:n.1291C>G
XR_934023.1:n.1291C>G
XM_006721516.3:c.1184C>G XP_006721579.2:p.Ser395Cys
XM_011523829.2:c.1184C>G XP_011522131.1:p.Ser395Cys
XM_011523830.2:c.1184C>G XP_011522132.1:p.Ser395Cys
XM_024450741.1:c.1184C>G XP_024306509.1:p.Ser395Cys
XR_934021.2:n.1243C>G
XR_934022.2:n.1243C>G
XR_934023.2:n.1243C>G
NM_000018.4:c.1184C>G MANE Select NP_000009.1:p.Ser395Cys
NM_001033859.3:c.1118C>G NP_001029031.1:p.Ser373Cys
NM_001270447.2:c.1253C>G NP_001257376.1:p.Ser418Cys
NM_001270448.2:c.956C>G NP_001257377.1:p.Ser319Cys
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