Canonical Allele Identifier: CA397722606
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220823T>A , CM000679.2:g.7220823T>A GRCh38
NC_000017.10:g.7124142T>A , CM000679.1:g.7124142T>A GRCh37
NC_000017.9:g.7064866T>A NCBI36
NG_007975.1:g.5990T>A
NG_008391.2:g.4228A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.335T>A MANE Select ENSP00000349297.5:p.Phe112Tyr
ENST00000322910.9:c.*290T>A ENSP00000325395.5:n.*290T>A
ENST00000350303.9:c.269T>A ENSP00000344152.5:p.Phe90Tyr
ENST00000356839.9:c.335T>A ENSP00000349297.5:p.Phe112Tyr
ENST00000543245.6:c.404T>A ENSP00000438689.2:p.Phe135Tyr
ENST00000577191.5:n.412T>A
ENST00000577433.5:n.543T>A
ENST00000577857.5:n.286T>A
ENST00000579286.5:n.516T>A
ENST00000579886.2:c.202-122T>A ENSP00000463246.1:n.202-122T>A
ENST00000580365.1:n.66T>A
ENST00000581378.5:c.34T>A
ENST00000581562.5:n.382T>A
ENST00000582056.5:n.425T>A
ENST00000582166.1:n.223T>A
ENST00000582356.5:n.534T>A
ENST00000583312.5:c.335T>A ENSP00000467920.1:p.Phe112Tyr
ENST00000584103.5:c.335T>A ENSP00000465353.1:p.Phe112Tyr
NM_000018.3:c.335T>A NP_000009.1:p.Phe112Tyr
NM_001033859.2:c.269T>A NP_001029031.1:p.Phe90Tyr
NM_001270447.1:c.404T>A NP_001257376.1:p.Phe135Tyr
NM_001270448.1:c.107T>A NP_001257377.1:p.Phe36Tyr
XM_006721516.2:c.335T>A XP_006721579.2:p.Phe112Tyr
XM_011523829.1:c.335T>A XP_011522131.1:p.Phe112Tyr
XM_011523830.1:c.335T>A XP_011522132.1:p.Phe112Tyr
XR_934021.1:n.442T>A
XR_934022.1:n.442T>A
XR_934023.1:n.442T>A
XM_006721516.3:c.335T>A XP_006721579.2:p.Phe112Tyr
XM_011523829.2:c.335T>A XP_011522131.1:p.Phe112Tyr
XM_011523830.2:c.335T>A XP_011522132.1:p.Phe112Tyr
XM_024450741.1:c.335T>A XP_024306509.1:p.Phe112Tyr
XR_934021.2:n.394T>A
XR_934022.2:n.394T>A
XR_934023.2:n.394T>A
NM_000018.4:c.335T>A MANE Select NP_000009.1:p.Phe112Tyr
NM_001033859.3:c.269T>A NP_001029031.1:p.Phe90Tyr
NM_001270447.2:c.404T>A NP_001257376.1:p.Phe135Tyr
NM_001270448.2:c.107T>A NP_001257377.1:p.Phe36Tyr