Canonical Allele Identifier: CA397724561
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126972T>G (hg19) chr17:g.7223653T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223653T>G , CM000679.2:g.7223653T>G GRCh38
NC_000017.10:g.7126972T>G , CM000679.1:g.7126972T>G GRCh37
NC_000017.9:g.7067696T>G NCBI36
NG_007975.1:g.8820T>G
NG_008391.2:g.1398A>C
NG_033038.1:g.15892A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1192T>G MANE Select ENSP00000349297.5:p.Tyr398Asp
ENST00000322910.9:c.*1147T>G ENSP00000325395.5:n.*1147T>G
ENST00000350303.9:c.1126T>G ENSP00000344152.5:p.Tyr376Asp
ENST00000356839.9:c.1192T>G ENSP00000349297.5:p.Tyr398Asp
ENST00000542255.6:c.50T>G
ENST00000543245.6:c.1261T>G ENSP00000438689.2:p.Tyr421Asp
ENST00000578579.2:n.363T>G
ENST00000578711.1:n.149T>G
ENST00000578824.5:n.608T>G
ENST00000579425.5:n.216T>G
ENST00000579546.1:c.29T>G
ENST00000583858.5:c.221T>G
ENST00000585203.6:n.400T>G
NM_000018.3:c.1192T>G NP_000009.1:p.Tyr398Asp
NM_001033859.2:c.1126T>G NP_001029031.1:p.Tyr376Asp
NM_001270447.1:c.1261T>G NP_001257376.1:p.Tyr421Asp
NM_001270448.1:c.964T>G NP_001257377.1:p.Tyr322Asp
XM_006721516.2:c.1192T>G XP_006721579.2:p.Tyr398Asp
XM_011523829.1:c.1192T>G XP_011522131.1:p.Tyr398Asp
XM_011523830.1:c.1192T>G XP_011522132.1:p.Tyr398Asp
XR_934021.1:n.1299T>G
XR_934022.1:n.1299T>G
XR_934023.1:n.1299T>G
XM_006721516.3:c.1192T>G XP_006721579.2:p.Tyr398Asp
XM_011523829.2:c.1192T>G XP_011522131.1:p.Tyr398Asp
XM_011523830.2:c.1192T>G XP_011522132.1:p.Tyr398Asp
XM_024450741.1:c.1192T>G XP_024306509.1:p.Tyr398Asp
XR_934021.2:n.1251T>G
XR_934022.2:n.1251T>G
XR_934023.2:n.1251T>G
NM_000018.4:c.1192T>G MANE Select NP_000009.1:p.Tyr398Asp
NM_001033859.3:c.1126T>G NP_001029031.1:p.Tyr376Asp
NM_001270447.2:c.1261T>G NP_001257376.1:p.Tyr421Asp
NM_001270448.2:c.964T>G NP_001257377.1:p.Tyr322Asp
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