Canonical Allele Identifier: CA8337582
Community Standard Title: NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220526G>A , CM000679.2:g.7220526G>A GRCh38
NC_000017.10:g.7123845G>A , CM000679.1:g.7123845G>A GRCh37
NC_000017.9:g.7064569G>A NCBI36
NG_007975.1:g.5693G>A
NG_008391.2:g.4525C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000018.4:c.201G>A MANE Select NP_000009.1:p.Lys67=
ENST00000356839.10:c.201G>A MANE Select ENSP00000349297.5:p.Lys67=
NM_000018.3:c.201G>A NP_000009.1:p.Lys67=
NM_001033859.2:c.139-78G>A NP_001029031.1:n.139-78G>A
NM_001033859.3:c.139-78G>A NP_001029031.1:n.139-78G>A
NM_001270447.1:c.270G>A NP_001257376.1:p.Lys90=
NM_001270447.2:c.270G>A NP_001257376.1:p.Lys90=
NM_001270448.1:c.-28G>A NP_001257377.1:n.-28G>A
NM_001270448.2:c.-28G>A NP_001257377.1:n.-28G>A
ENST00000322910.9:c.*156G>A ENSP00000325395.5:n.*156G>A
ENST00000350303.9:c.139-78G>A ENSP00000344152.5:n.139-78G>A
ENST00000356839.9:c.201G>A ENSP00000349297.5:p.Lys67=
ENST00000543245.6:c.270G>A ENSP00000438689.2:p.Lys90=
ENST00000577191.5:n.278G>A
ENST00000577433.5:n.335G>A
ENST00000577857.5:n.229-240G>A
ENST00000578269.5:n.574G>A
ENST00000578421.1:n.335G>A
ENST00000579286.5:n.308G>A
ENST00000579886.2:c.201G>A ENSP00000463246.1:p.Lys67=
ENST00000580263.5:n.291G>A
ENST00000581562.5:n.248G>A
ENST00000582056.5:n.291G>A
ENST00000582166.1:n.89G>A
ENST00000582356.5:n.326G>A
ENST00000583312.5:c.201G>A ENSP00000467920.1:p.Lys67=
ENST00000584103.5:c.201G>A ENSP00000465353.1:p.Lys67=
XM_006721516.2:c.201G>A XP_006721579.2:p.Lys67=
XM_006721516.3:c.201G>A XP_006721579.2:p.Lys67=
XM_011523829.1:c.201G>A XP_011522131.1:p.Lys67=
XM_011523829.2:c.201G>A XP_011522131.1:p.Lys67=
XM_011523830.1:c.201G>A XP_011522132.1:p.Lys67=
XM_011523830.2:c.201G>A XP_011522132.1:p.Lys67=
XM_024450741.1:c.201G>A XP_024306509.1:p.Lys67=
XR_934021.1:n.308G>A
XR_934021.2:n.260G>A
XR_934022.1:n.308G>A
XR_934022.2:n.260G>A
XR_934023.1:n.308G>A
XR_934023.2:n.260G>A