Canonical Allele Identifier: CA397722466
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220669C>G , CM000679.2:g.7220669C>G GRCh38
NC_000017.10:g.7123988C>G , CM000679.1:g.7123988C>G GRCh37
NC_000017.9:g.7064712C>G NCBI36
NG_007975.1:g.5836C>G
NG_008391.2:g.4382G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.270C>G MANE Select ENSP00000349297.5:p.Tyr90Ter
ENST00000322910.9:c.*225C>G ENSP00000325395.5:n.*225C>G
ENST00000350303.9:c.204C>G ENSP00000344152.5:p.Tyr68Ter
ENST00000356839.9:c.270C>G ENSP00000349297.5:p.Tyr90Ter
ENST00000543245.6:c.339C>G ENSP00000438689.2:p.Tyr113Ter
ENST00000577191.5:n.347C>G
ENST00000577433.5:n.478C>G
ENST00000577857.5:n.229-97C>G
ENST00000578269.5:n.717C>G
ENST00000578421.1:n.478C>G
ENST00000579286.5:n.451C>G
ENST00000579886.2:c.201+143C>G ENSP00000463246.1:n.201+143C>G
ENST00000580263.5:n.434C>G
ENST00000581562.5:n.317C>G
ENST00000582056.5:n.360C>G
ENST00000582166.1:n.158C>G
ENST00000582356.5:n.469C>G
ENST00000583312.5:c.270C>G ENSP00000467920.1:p.Tyr90Ter
ENST00000584103.5:c.270C>G ENSP00000465353.1:p.Tyr90Ter
NM_000018.3:c.270C>G NP_000009.1:p.Tyr90Ter
NM_001033859.2:c.204C>G NP_001029031.1:p.Tyr68Ter
NM_001270447.1:c.339C>G NP_001257376.1:p.Tyr113Ter
NM_001270448.1:c.42C>G NP_001257377.1:p.Tyr14Ter
XM_006721516.2:c.270C>G XP_006721579.2:p.Tyr90Ter
XM_011523829.1:c.270C>G XP_011522131.1:p.Tyr90Ter
XM_011523830.1:c.270C>G XP_011522132.1:p.Tyr90Ter
XR_934021.1:n.377C>G
XR_934022.1:n.377C>G
XR_934023.1:n.377C>G
XM_006721516.3:c.270C>G XP_006721579.2:p.Tyr90Ter
XM_011523829.2:c.270C>G XP_011522131.1:p.Tyr90Ter
XM_011523830.2:c.270C>G XP_011522132.1:p.Tyr90Ter
XM_024450741.1:c.270C>G XP_024306509.1:p.Tyr90Ter
XR_934021.2:n.329C>G
XR_934022.2:n.329C>G
XR_934023.2:n.329C>G
NM_000018.4:c.270C>G MANE Select NP_000009.1:p.Tyr90Ter
NM_001033859.3:c.204C>G NP_001029031.1:p.Tyr68Ter
NM_001270447.2:c.339C>G NP_001257376.1:p.Tyr113Ter
NM_001270448.2:c.42C>G NP_001257377.1:p.Tyr14Ter