Canonical Allele Identifier: CA397724575
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126978G>C (hg19) chr17:g.7223659G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223659G>C , CM000679.2:g.7223659G>C GRCh38
NC_000017.10:g.7126978G>C , CM000679.1:g.7126978G>C GRCh37
NC_000017.9:g.7067702G>C NCBI36
NG_007975.1:g.8826G>C
NG_008391.2:g.1392C>G
NG_033038.1:g.15886C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1198G>C MANE Select ENSP00000349297.5:p.Val400Leu
ENST00000322910.9:c.*1153G>C ENSP00000325395.5:n.*1153G>C
ENST00000350303.9:c.1132G>C ENSP00000344152.5:p.Val378Leu
ENST00000356839.9:c.1198G>C ENSP00000349297.5:p.Val400Leu
ENST00000542255.6:c.56G>C
ENST00000543245.6:c.1267G>C ENSP00000438689.2:p.Val423Leu
ENST00000578579.2:n.369G>C
ENST00000578711.1:n.155G>C
ENST00000578824.5:n.614G>C
ENST00000579425.5:n.222G>C
ENST00000579546.1:c.35G>C
ENST00000583858.5:c.227G>C
ENST00000585203.6:n.406G>C
NM_000018.3:c.1198G>C NP_000009.1:p.Val400Leu
NM_001033859.2:c.1132G>C NP_001029031.1:p.Val378Leu
NM_001270447.1:c.1267G>C NP_001257376.1:p.Val423Leu
NM_001270448.1:c.970G>C NP_001257377.1:p.Val324Leu
XM_006721516.2:c.1198G>C XP_006721579.2:p.Val400Leu
XM_011523829.1:c.1198G>C XP_011522131.1:p.Val400Leu
XM_011523830.1:c.1198G>C XP_011522132.1:p.Val400Leu
XR_934021.1:n.1305G>C
XR_934022.1:n.1305G>C
XR_934023.1:n.1305G>C
XM_006721516.3:c.1198G>C XP_006721579.2:p.Val400Leu
XM_011523829.2:c.1198G>C XP_011522131.1:p.Val400Leu
XM_011523830.2:c.1198G>C XP_011522132.1:p.Val400Leu
XM_024450741.1:c.1198G>C XP_024306509.1:p.Val400Leu
XR_934021.2:n.1257G>C
XR_934022.2:n.1257G>C
XR_934023.2:n.1257G>C
NM_000018.4:c.1198G>C MANE Select NP_000009.1:p.Val400Leu
NM_001033859.3:c.1132G>C NP_001029031.1:p.Val378Leu
NM_001270447.2:c.1267G>C NP_001257376.1:p.Val423Leu
NM_001270448.2:c.970G>C NP_001257377.1:p.Val324Leu
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