Canonical Allele Identifier: CA397724013
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126045A>C (hg19) chr17:g.7222726A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222726A>C , CM000679.2:g.7222726A>C GRCh38
NC_000017.10:g.7126045A>C , CM000679.1:g.7126045A>C GRCh37
NC_000017.9:g.7066769A>C NCBI36
NG_007975.1:g.7893A>C
NG_008391.2:g.2325T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.938A>C MANE Select ENSP00000349297.5:p.Asp313Ala
ENST00000322910.9:c.*893A>C ENSP00000325395.5:n.*893A>C
ENST00000350303.9:c.872A>C ENSP00000344152.5:p.Asp291Ala
ENST00000356839.9:c.938A>C ENSP00000349297.5:p.Asp313Ala
ENST00000543245.6:c.1007A>C ENSP00000438689.2:p.Asp336Ala
ENST00000578824.5:n.87A>C
ENST00000581378.5:c.656A>C
ENST00000582379.1:n.322A>C
NM_000018.3:c.938A>C NP_000009.1:p.Asp313Ala
NM_001033859.2:c.872A>C NP_001029031.1:p.Asp291Ala
NM_001270447.1:c.1007A>C NP_001257376.1:p.Asp336Ala
NM_001270448.1:c.710A>C NP_001257377.1:p.Asp237Ala
XM_006721516.2:c.938A>C XP_006721579.2:p.Asp313Ala
XM_011523829.1:c.938A>C XP_011522131.1:p.Asp313Ala
XM_011523830.1:c.938A>C XP_011522132.1:p.Asp313Ala
XR_934021.1:n.1045A>C
XR_934022.1:n.1045A>C
XR_934023.1:n.1045A>C
XM_006721516.3:c.938A>C XP_006721579.2:p.Asp313Ala
XM_011523829.2:c.938A>C XP_011522131.1:p.Asp313Ala
XM_011523830.2:c.938A>C XP_011522132.1:p.Asp313Ala
XM_024450741.1:c.938A>C XP_024306509.1:p.Asp313Ala
XR_934021.2:n.997A>C
XR_934022.2:n.997A>C
XR_934023.2:n.997A>C
NM_000018.4:c.938A>C MANE Select NP_000009.1:p.Asp313Ala
NM_001033859.3:c.872A>C NP_001029031.1:p.Asp291Ala
NM_001270447.2:c.1007A>C NP_001257376.1:p.Asp336Ala
NM_001270448.2:c.710A>C NP_001257377.1:p.Asp237Ala
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