Canonical Allele Identifier: CA397724567
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2434914
ClinVar RCV Id: RCV003134956
MyVariant Identifiers: chr17:g.7126974C>G (hg19) chr17:g.7223655C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223655C>G , CM000679.2:g.7223655C>G GRCh38
NC_000017.10:g.7126974C>G , CM000679.1:g.7126974C>G GRCh37
NC_000017.9:g.7067698C>G NCBI36
NG_007975.1:g.8822C>G
NG_008391.2:g.1396G>C
NG_033038.1:g.15890G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1194C>G MANE Select ENSP00000349297.5:p.Tyr398Ter
ENST00000322910.9:c.*1149C>G ENSP00000325395.5:n.*1149C>G
ENST00000350303.9:c.1128C>G ENSP00000344152.5:p.Tyr376Ter
ENST00000356839.9:c.1194C>G ENSP00000349297.5:p.Tyr398Ter
ENST00000542255.6:c.52C>G
ENST00000543245.6:c.1263C>G ENSP00000438689.2:p.Tyr421Ter
ENST00000578579.2:n.365C>G
ENST00000578711.1:n.151C>G
ENST00000578824.5:n.610C>G
ENST00000579425.5:n.218C>G
ENST00000579546.1:c.31C>G
ENST00000583858.5:c.223C>G
ENST00000585203.6:n.402C>G
NM_000018.3:c.1194C>G NP_000009.1:p.Tyr398Ter
NM_001033859.2:c.1128C>G NP_001029031.1:p.Tyr376Ter
NM_001270447.1:c.1263C>G NP_001257376.1:p.Tyr421Ter
NM_001270448.1:c.966C>G NP_001257377.1:p.Tyr322Ter
XM_006721516.2:c.1194C>G XP_006721579.2:p.Tyr398Ter
XM_011523829.1:c.1194C>G XP_011522131.1:p.Tyr398Ter
XM_011523830.1:c.1194C>G XP_011522132.1:p.Tyr398Ter
XR_934021.1:n.1301C>G
XR_934022.1:n.1301C>G
XR_934023.1:n.1301C>G
XM_006721516.3:c.1194C>G XP_006721579.2:p.Tyr398Ter
XM_011523829.2:c.1194C>G XP_011522131.1:p.Tyr398Ter
XM_011523830.2:c.1194C>G XP_011522132.1:p.Tyr398Ter
XM_024450741.1:c.1194C>G XP_024306509.1:p.Tyr398Ter
XR_934021.2:n.1253C>G
XR_934022.2:n.1253C>G
XR_934023.2:n.1253C>G
NM_000018.4:c.1194C>G MANE Select NP_000009.1:p.Tyr398Ter
NM_001033859.3:c.1128C>G NP_001029031.1:p.Tyr376Ter
NM_001270447.2:c.1263C>G NP_001257376.1:p.Tyr421Ter
NM_001270448.2:c.966C>G NP_001257377.1:p.Tyr322Ter
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