Canonical Allele Identifier: CA397723066
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221571G>C , CM000679.2:g.7221571G>C GRCh38
NC_000017.10:g.7124890G>C , CM000679.1:g.7124890G>C GRCh37
NC_000017.9:g.7065614G>C NCBI36
NG_007975.1:g.6738G>C
NG_008391.2:g.3480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.511G>C MANE Select ENSP00000349297.5:p.Asp171His
ENST00000322910.9:c.*466G>C ENSP00000325395.5:n.*466G>C
ENST00000350303.9:c.445G>C ENSP00000344152.5:p.Asp149His
ENST00000356839.9:c.511G>C ENSP00000349297.5:p.Asp171His
ENST00000543245.6:c.580G>C ENSP00000438689.2:p.Asp194His
ENST00000577191.5:n.588G>C
ENST00000577433.5:n.719G>C
ENST00000577857.5:n.327G>C
ENST00000579286.5:n.692G>C
ENST00000579886.2:c.349G>C ENSP00000463246.1:p.Asp117His
ENST00000580365.1:n.242G>C
ENST00000581378.5:c.229G>C
ENST00000581562.5:n.525-381G>C
ENST00000582166.1:n.492G>C
ENST00000583312.5:c.511G>C ENSP00000467920.1:p.Asp171His
ENST00000583760.1:n.293G>C
NM_000018.3:c.511G>C NP_000009.1:p.Asp171His
NM_001033859.2:c.445G>C NP_001029031.1:p.Asp149His
NM_001270447.1:c.580G>C NP_001257376.1:p.Asp194His
NM_001270448.1:c.283G>C NP_001257377.1:p.Asp95His
XM_006721516.2:c.511G>C XP_006721579.2:p.Asp171His
XM_011523829.1:c.511G>C XP_011522131.1:p.Asp171His
XM_011523830.1:c.511G>C XP_011522132.1:p.Asp171His
XR_934021.1:n.618G>C
XR_934022.1:n.618G>C
XR_934023.1:n.618G>C
XM_006721516.3:c.511G>C XP_006721579.2:p.Asp171His
XM_011523829.2:c.511G>C XP_011522131.1:p.Asp171His
XM_011523830.2:c.511G>C XP_011522132.1:p.Asp171His
XM_024450741.1:c.511G>C XP_024306509.1:p.Asp171His
XR_934021.2:n.570G>C
XR_934022.2:n.570G>C
XR_934023.2:n.570G>C
NM_000018.4:c.511G>C MANE Select NP_000009.1:p.Asp171His
NM_001033859.3:c.445G>C NP_001029031.1:p.Asp149His
NM_001270447.2:c.580G>C NP_001257376.1:p.Asp194His
NM_001270448.2:c.283G>C NP_001257377.1:p.Asp95His