Canonical Allele Identifier: CA397723709
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1299153260
gnomAD v4: 17-7222220-C-G
MyVariant Identifiers: chr17:g.7125539C>G (hg19) chr17:g.7222220C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222220C>G , CM000679.2:g.7222220C>G GRCh38
NC_000017.10:g.7125539C>G , CM000679.1:g.7125539C>G GRCh37
NC_000017.9:g.7066263C>G NCBI36
NG_007975.1:g.7387C>G
NG_008391.2:g.2831G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.796C>G MANE Select ENSP00000349297.5:p.Pro266Ala
ENST00000322910.9:c.*751C>G ENSP00000325395.5:n.*751C>G
ENST00000350303.9:c.730C>G ENSP00000344152.5:p.Pro244Ala
ENST00000356839.9:c.796C>G ENSP00000349297.5:p.Pro266Ala
ENST00000543245.6:c.865C>G ENSP00000438689.2:p.Pro289Ala
ENST00000577191.5:n.968C>G
ENST00000581378.5:c.514C>G
ENST00000582379.1:n.180C>G
NM_000018.3:c.796C>G NP_000009.1:p.Pro266Ala
NM_001033859.2:c.730C>G NP_001029031.1:p.Pro244Ala
NM_001270447.1:c.865C>G NP_001257376.1:p.Pro289Ala
NM_001270448.1:c.568C>G NP_001257377.1:p.Pro190Ala
XM_006721516.2:c.796C>G XP_006721579.2:p.Pro266Ala
XM_011523829.1:c.796C>G XP_011522131.1:p.Pro266Ala
XM_011523830.1:c.796C>G XP_011522132.1:p.Pro266Ala
XR_934021.1:n.903C>G
XR_934022.1:n.903C>G
XR_934023.1:n.903C>G
XM_006721516.3:c.796C>G XP_006721579.2:p.Pro266Ala
XM_011523829.2:c.796C>G XP_011522131.1:p.Pro266Ala
XM_011523830.2:c.796C>G XP_011522132.1:p.Pro266Ala
XM_024450741.1:c.796C>G XP_024306509.1:p.Pro266Ala
XR_934021.2:n.855C>G
XR_934022.2:n.855C>G
XR_934023.2:n.855C>G
NM_000018.4:c.796C>G MANE Select NP_000009.1:p.Pro266Ala
NM_001033859.3:c.730C>G NP_001029031.1:p.Pro244Ala
NM_001270447.2:c.865C>G NP_001257376.1:p.Pro289Ala
NM_001270448.2:c.568C>G NP_001257377.1:p.Pro190Ala
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