Canonical Allele Identifier: CA397722617
Community Standard Title: NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220827C>A , CM000679.2:g.7220827C>A GRCh38
NC_000017.10:g.7124146C>A , CM000679.1:g.7124146C>A GRCh37
NC_000017.9:g.7064870C>A NCBI36
NG_007975.1:g.5994C>A
NG_008391.2:g.4224G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000018.4:c.339C>A MANE Select NP_000009.1:p.Phe113Leu
ENST00000356839.10:c.339C>A MANE Select ENSP00000349297.5:p.Phe113Leu
NM_000018.3:c.339C>A NP_000009.1:p.Phe113Leu
NM_001033859.2:c.273C>A NP_001029031.1:p.Phe91Leu
NM_001033859.3:c.273C>A NP_001029031.1:p.Phe91Leu
NM_001270447.1:c.408C>A NP_001257376.1:p.Phe136Leu
NM_001270447.2:c.408C>A NP_001257376.1:p.Phe136Leu
NM_001270448.1:c.111C>A NP_001257377.1:p.Phe37Leu
NM_001270448.2:c.111C>A NP_001257377.1:p.Phe37Leu
ENST00000322910.9:c.*294C>A ENSP00000325395.5:n.*294C>A
ENST00000350303.9:c.273C>A ENSP00000344152.5:p.Phe91Leu
ENST00000356839.9:c.339C>A ENSP00000349297.5:p.Phe113Leu
ENST00000543245.6:c.408C>A ENSP00000438689.2:p.Phe136Leu
ENST00000577191.5:n.416C>A
ENST00000577433.5:n.547C>A
ENST00000577857.5:n.290C>A
ENST00000579286.5:n.520C>A
ENST00000579886.2:c.202-118C>A ENSP00000463246.1:n.202-118C>A
ENST00000580365.1:n.70C>A
ENST00000581378.5:c.38C>A
ENST00000581562.5:n.386C>A
ENST00000582056.5:n.429C>A
ENST00000582166.1:n.227C>A
ENST00000582356.5:n.538C>A
ENST00000583312.5:c.339C>A ENSP00000467920.1:p.Phe113Leu
ENST00000584103.5:c.339C>A ENSP00000465353.1:p.Phe113Leu
XM_006721516.2:c.339C>A XP_006721579.2:p.Phe113Leu
XM_006721516.3:c.339C>A XP_006721579.2:p.Phe113Leu
XM_011523829.1:c.339C>A XP_011522131.1:p.Phe113Leu
XM_011523829.2:c.339C>A XP_011522131.1:p.Phe113Leu
XM_011523830.1:c.339C>A XP_011522132.1:p.Phe113Leu
XM_011523830.2:c.339C>A XP_011522132.1:p.Phe113Leu
XM_024450741.1:c.339C>A XP_024306509.1:p.Phe113Leu
XR_934021.1:n.446C>A
XR_934021.2:n.398C>A
XR_934022.1:n.446C>A
XR_934022.2:n.398C>A
XR_934023.1:n.446C>A
XR_934023.2:n.398C>A