Canonical Allele Identifier: CA397723631
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222182-G-C
MyVariant Identifiers: chr17:g.7125501G>C (hg19) chr17:g.7222182G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222182G>C , CM000679.2:g.7222182G>C GRCh38
NC_000017.10:g.7125501G>C , CM000679.1:g.7125501G>C GRCh37
NC_000017.9:g.7066225G>C NCBI36
NG_007975.1:g.7349G>C
NG_008391.2:g.2869C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.758G>C MANE Select ENSP00000349297.5:p.Gly253Ala
ENST00000322910.9:c.*713G>C ENSP00000325395.5:n.*713G>C
ENST00000350303.9:c.692G>C ENSP00000344152.5:p.Gly231Ala
ENST00000356839.9:c.758G>C ENSP00000349297.5:p.Gly253Ala
ENST00000543245.6:c.827G>C ENSP00000438689.2:p.Gly276Ala
ENST00000577191.5:n.930G>C
ENST00000581378.5:c.476G>C
ENST00000582379.1:n.142G>C
NM_000018.3:c.758G>C NP_000009.1:p.Gly253Ala
NM_001033859.2:c.692G>C NP_001029031.1:p.Gly231Ala
NM_001270447.1:c.827G>C NP_001257376.1:p.Gly276Ala
NM_001270448.1:c.530G>C NP_001257377.1:p.Gly177Ala
XM_006721516.2:c.758G>C XP_006721579.2:p.Gly253Ala
XM_011523829.1:c.758G>C XP_011522131.1:p.Gly253Ala
XM_011523830.1:c.758G>C XP_011522132.1:p.Gly253Ala
XR_934021.1:n.865G>C
XR_934022.1:n.865G>C
XR_934023.1:n.865G>C
XM_006721516.3:c.758G>C XP_006721579.2:p.Gly253Ala
XM_011523829.2:c.758G>C XP_011522131.1:p.Gly253Ala
XM_011523830.2:c.758G>C XP_011522132.1:p.Gly253Ala
XM_024450741.1:c.758G>C XP_024306509.1:p.Gly253Ala
XR_934021.2:n.817G>C
XR_934022.2:n.817G>C
XR_934023.2:n.817G>C
NM_000018.4:c.758G>C MANE Select NP_000009.1:p.Gly253Ala
NM_001033859.3:c.692G>C NP_001029031.1:p.Gly231Ala
NM_001270447.2:c.827G>C NP_001257376.1:p.Gly276Ala
NM_001270448.2:c.530G>C NP_001257377.1:p.Gly177Ala
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