Canonical Allele Identifier: CA497693815
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221678-A-C
MyVariant Identifiers: chr17:g.7124997A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221678A>C , CM000679.2:g.7221678A>C GRCh38
NC_000017.10:g.7124997A>C , CM000679.1:g.7124997A>C GRCh37
NC_000017.9:g.7065721A>C NCBI36
NG_007975.1:g.6845A>C
NG_008391.2:g.3373T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.618A>C MANE Select ENSP00000349297.5:p.Ala206=
ENST00000322910.9:c.*573A>C ENSP00000325395.5:n.*573A>C
ENST00000350303.9:c.552A>C ENSP00000344152.5:p.Ala184=
ENST00000356839.9:c.618A>C ENSP00000349297.5:p.Ala206=
ENST00000543245.6:c.687A>C ENSP00000438689.2:p.Ala229=
ENST00000577191.5:n.695A>C
ENST00000577857.5:n.434A>C
ENST00000579286.5:n.799A>C
ENST00000579886.2:c.456A>C ENSP00000463246.1:p.Ala152=
ENST00000580365.1:n.349A>C
ENST00000581378.5:c.336A>C
ENST00000581562.5:n.525-274A>C
ENST00000583312.5:c.618A>C ENSP00000467920.1:p.Ala206=
ENST00000583760.1:n.400A>C
NM_000018.3:c.618A>C NP_000009.1:p.Ala206=
NM_001033859.2:c.552A>C NP_001029031.1:p.Ala184=
NM_001270447.1:c.687A>C NP_001257376.1:p.Ala229=
NM_001270448.1:c.390A>C NP_001257377.1:p.Ala130=
XM_006721516.2:c.618A>C XP_006721579.2:p.Ala206=
XM_011523829.1:c.618A>C XP_011522131.1:p.Ala206=
XM_011523830.1:c.618A>C XP_011522132.1:p.Ala206=
XR_934021.1:n.725A>C
XR_934022.1:n.725A>C
XR_934023.1:n.725A>C
XM_006721516.3:c.618A>C XP_006721579.2:p.Ala206=
XM_011523829.2:c.618A>C XP_011522131.1:p.Ala206=
XM_011523830.2:c.618A>C XP_011522132.1:p.Ala206=
XM_024450741.1:c.618A>C XP_024306509.1:p.Ala206=
XR_934021.2:n.677A>C
XR_934022.2:n.677A>C
XR_934023.2:n.677A>C
NM_000018.4:c.618A>C MANE Select NP_000009.1:p.Ala206=
NM_001033859.3:c.552A>C NP_001029031.1:p.Ala184=
NM_001270447.2:c.687A>C NP_001257376.1:p.Ala229=
NM_001270448.2:c.390A>C NP_001257377.1:p.Ala130=
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