Canonical Allele Identifier: CA295584
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 166641
dbSNP Id: rs727503791
gnomAD v2: 17-7124917-G-A
gnomAD v3: 17-7221598-G-A
gnomAD v4: 17-7221598-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221598G>A , CM000679.2:g.7221598G>A GRCh38
NC_000017.10:g.7124917G>A , CM000679.1:g.7124917G>A GRCh37
NC_000017.9:g.7065641G>A NCBI36
NG_007975.1:g.6765G>A
NG_008391.2:g.3453C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.538G>A MANE Select ENSP00000349297.5:p.Ala180Thr
ENST00000322910.9:c.*493G>A ENSP00000325395.5:n.*493G>A
ENST00000350303.9:c.472G>A ENSP00000344152.5:p.Ala158Thr
ENST00000356839.9:c.538G>A ENSP00000349297.5:p.Ala180Thr
ENST00000543245.6:c.607G>A ENSP00000438689.2:p.Ala203Thr
ENST00000577191.5:n.615G>A
ENST00000577433.5:n.746G>A
ENST00000577857.5:n.354G>A
ENST00000579286.5:n.719G>A
ENST00000579886.2:c.376G>A ENSP00000463246.1:p.Ala126Thr
ENST00000580365.1:n.269G>A
ENST00000581378.5:c.256G>A
ENST00000581562.5:n.525-354G>A
ENST00000582166.1:n.519G>A
ENST00000583312.5:c.538G>A ENSP00000467920.1:p.Ala180Thr
ENST00000583760.1:n.320G>A
NM_000018.3:c.538G>A NP_000009.1:p.Ala180Thr
NM_001033859.2:c.472G>A NP_001029031.1:p.Ala158Thr
NM_001270447.1:c.607G>A NP_001257376.1:p.Ala203Thr
NM_001270448.1:c.310G>A NP_001257377.1:p.Ala104Thr
XM_006721516.2:c.538G>A XP_006721579.2:p.Ala180Thr
XM_011523829.1:c.538G>A XP_011522131.1:p.Ala180Thr
XM_011523830.1:c.538G>A XP_011522132.1:p.Ala180Thr
XR_934021.1:n.645G>A
XR_934022.1:n.645G>A
XR_934023.1:n.645G>A
XM_006721516.3:c.538G>A XP_006721579.2:p.Ala180Thr
XM_011523829.2:c.538G>A XP_011522131.1:p.Ala180Thr
XM_011523830.2:c.538G>A XP_011522132.1:p.Ala180Thr
XM_024450741.1:c.538G>A XP_024306509.1:p.Ala180Thr
XR_934021.2:n.597G>A
XR_934022.2:n.597G>A
XR_934023.2:n.597G>A
NM_000018.4:c.538G>A MANE Select NP_000009.1:p.Ala180Thr
NM_001033859.3:c.472G>A NP_001029031.1:p.Ala158Thr
NM_001270447.2:c.607G>A NP_001257376.1:p.Ala203Thr
NM_001270448.2:c.310G>A NP_001257377.1:p.Ala104Thr