Canonical Allele Identifier: CA8337568
Community Standard Title: NM_000018.4(ACADVL):c.139-20C>T
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220444C>T , CM000679.2:g.7220444C>T GRCh38
NC_000017.10:g.7123763C>T , CM000679.1:g.7123763C>T GRCh37
NC_000017.9:g.7064487C>T NCBI36
NG_007975.1:g.5611C>T
NG_008391.2:g.4607G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000018.4:c.139-20C>T MANE Select NP_000009.1:n.139-20C>T
ENST00000356839.10:c.139-20C>T MANE Select ENSP00000349297.5:n.139-20C>T
NM_000018.3:c.139-20C>T NP_000009.1:n.139-20C>T
NM_001033859.2:c.139-160C>T NP_001029031.1:n.139-160C>T
NM_001033859.3:c.139-160C>T NP_001029031.1:n.139-160C>T
NM_001270447.1:c.208-20C>T NP_001257376.1:n.208-20C>T
NM_001270447.2:c.208-20C>T NP_001257376.1:n.208-20C>T
NM_001270448.1:c.-90-20C>T NP_001257377.1:n.-90-20C>T
NM_001270448.2:c.-90-20C>T NP_001257377.1:n.-90-20C>T
ENST00000322910.9:c.*94-20C>T ENSP00000325395.5:n.*94-20C>T
ENST00000350303.9:c.139-160C>T ENSP00000344152.5:n.139-160C>T
ENST00000356839.9:c.139-20C>T ENSP00000349297.5:n.139-20C>T
ENST00000543245.6:c.208-20C>T ENSP00000438689.2:n.208-20C>T
ENST00000577191.5:n.216-20C>T
ENST00000577433.5:n.253C>T
ENST00000577857.5:n.228+247C>T
ENST00000578269.5:n.492C>T
ENST00000578421.1:n.273-20C>T
ENST00000579286.5:n.246-20C>T
ENST00000579886.2:c.139-20C>T ENSP00000463246.1:n.139-20C>T
ENST00000580263.5:n.229-20C>T
ENST00000581562.5:n.186-20C>T
ENST00000582056.5:n.229-20C>T
ENST00000582166.1:n.7C>T
ENST00000582356.5:n.264-20C>T
ENST00000583312.5:c.139-20C>T ENSP00000467920.1:n.139-20C>T
ENST00000584103.5:c.139-20C>T ENSP00000465353.1:n.139-20C>T
XM_006721516.2:c.139-20C>T XP_006721579.2:n.139-20C>T
XM_006721516.3:c.139-20C>T XP_006721579.2:n.139-20C>T
XM_011523829.1:c.139-20C>T XP_011522131.1:n.139-20C>T
XM_011523829.2:c.139-20C>T XP_011522131.1:n.139-20C>T
XM_011523830.1:c.139-20C>T XP_011522132.1:n.139-20C>T
XM_011523830.2:c.139-20C>T XP_011522132.1:n.139-20C>T
XM_024450741.1:c.139-20C>T XP_024306509.1:n.139-20C>T
XR_934021.1:n.246-20C>T
XR_934021.2:n.198-20C>T
XR_934022.1:n.246-20C>T
XR_934022.2:n.198-20C>T
XR_934023.1:n.246-20C>T
XR_934023.2:n.198-20C>T