Canonical Allele Identifier: CA397724584
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223663G>C , CM000679.2:g.7223663G>C GRCh38
NC_000017.10:g.7126982G>C , CM000679.1:g.7126982G>C GRCh37
NC_000017.9:g.7067706G>C NCBI36
NG_007975.1:g.8830G>C
NG_008391.2:g.1388C>G
NG_033038.1:g.15882C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1202G>C MANE Select ENSP00000349297.5:p.Ser401Thr
ENST00000322910.9:c.*1157G>C ENSP00000325395.5:n.*1157G>C
ENST00000350303.9:c.1136G>C ENSP00000344152.5:p.Ser379Thr
ENST00000356839.9:c.1202G>C ENSP00000349297.5:p.Ser401Thr
ENST00000542255.6:c.60G>C
ENST00000543245.6:c.1271G>C ENSP00000438689.2:p.Ser424Thr
ENST00000578579.2:n.373G>C
ENST00000578711.1:n.159G>C
ENST00000578824.5:n.618G>C
ENST00000579425.5:n.226G>C
ENST00000579546.1:c.39G>C
ENST00000583858.5:c.231G>C
ENST00000585203.6:n.410G>C
NM_000018.3:c.1202G>C NP_000009.1:p.Ser401Thr
NM_001033859.2:c.1136G>C NP_001029031.1:p.Ser379Thr
NM_001270447.1:c.1271G>C NP_001257376.1:p.Ser424Thr
NM_001270448.1:c.974G>C NP_001257377.1:p.Ser325Thr
XM_006721516.2:c.1202G>C XP_006721579.2:p.Ser401Thr
XM_011523829.1:c.1202G>C XP_011522131.1:p.Ser401Thr
XM_011523830.1:c.1202G>C XP_011522132.1:p.Ser401Thr
XR_934021.1:n.1309G>C
XR_934022.1:n.1309G>C
XR_934023.1:n.1309G>C
XM_006721516.3:c.1202G>C XP_006721579.2:p.Ser401Thr
XM_011523829.2:c.1202G>C XP_011522131.1:p.Ser401Thr
XM_011523830.2:c.1202G>C XP_011522132.1:p.Ser401Thr
XM_024450741.1:c.1202G>C XP_024306509.1:p.Ser401Thr
XR_934021.2:n.1261G>C
XR_934022.2:n.1261G>C
XR_934023.2:n.1261G>C
NM_000018.4:c.1202G>C MANE Select NP_000009.1:p.Ser401Thr
NM_001033859.3:c.1136G>C NP_001029031.1:p.Ser379Thr
NM_001270447.2:c.1271G>C NP_001257376.1:p.Ser424Thr
NM_001270448.2:c.974G>C NP_001257377.1:p.Ser325Thr