Canonical Allele Identifier: CA397724782
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127148T>G (hg19) chr17:g.7223829T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223829T>G , CM000679.2:g.7223829T>G GRCh38
NC_000017.10:g.7127148T>G , CM000679.1:g.7127148T>G GRCh37
NC_000017.9:g.7067872T>G NCBI36
NG_007975.1:g.8996T>G
NG_008391.2:g.1222A>C
NG_033038.1:g.15716A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1286T>G MANE Select ENSP00000349297.5:p.Val429Gly
ENST00000322910.9:c.*1241T>G ENSP00000325395.5:n.*1241T>G
ENST00000350303.9:c.1220T>G ENSP00000344152.5:p.Val407Gly
ENST00000356839.9:c.1286T>G ENSP00000349297.5:p.Val429Gly
ENST00000542255.6:c.144T>G
ENST00000543245.6:c.1355T>G ENSP00000438689.2:p.Val452Gly
ENST00000578579.2:n.457T>G
ENST00000578711.1:n.325T>G
ENST00000578824.5:n.702T>G
ENST00000579425.5:n.310T>G
ENST00000579546.1:c.123T>G
ENST00000583074.5:n.5T>G
ENST00000583850.5:n.61T>G
ENST00000583858.5:c.315T>G
ENST00000585203.6:n.494T>G
NM_000018.3:c.1286T>G NP_000009.1:p.Val429Gly
NM_001033859.2:c.1220T>G NP_001029031.1:p.Val407Gly
NM_001270447.1:c.1355T>G NP_001257376.1:p.Val452Gly
NM_001270448.1:c.1058T>G NP_001257377.1:p.Val353Gly
XM_006721516.2:c.1286T>G XP_006721579.2:p.Val429Gly
XM_011523829.1:c.1286T>G XP_011522131.1:p.Val429Gly
XM_011523830.1:c.1286T>G XP_011522132.1:p.Val429Gly
XR_934021.1:n.1393T>G
XR_934022.1:n.1393T>G
XR_934023.1:n.1393T>G
XM_006721516.3:c.1286T>G XP_006721579.2:p.Val429Gly
XM_011523829.2:c.1286T>G XP_011522131.1:p.Val429Gly
XM_011523830.2:c.1286T>G XP_011522132.1:p.Val429Gly
XM_024450741.1:c.1286T>G XP_024306509.1:p.Val429Gly
XR_934021.2:n.1345T>G
XR_934022.2:n.1345T>G
XR_934023.2:n.1345T>G
NM_000018.4:c.1286T>G MANE Select NP_000009.1:p.Val429Gly
NM_001033859.3:c.1220T>G NP_001029031.1:p.Val407Gly
NM_001270447.2:c.1355T>G NP_001257376.1:p.Val452Gly
NM_001270448.2:c.1058T>G NP_001257377.1:p.Val353Gly
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