Canonical Allele Identifier: CA397724635
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223686A>C , CM000679.2:g.7223686A>C GRCh38
NC_000017.10:g.7127005A>C , CM000679.1:g.7127005A>C GRCh37
NC_000017.9:g.7067729A>C NCBI36
NG_007975.1:g.8853A>C
NG_008391.2:g.1365T>G
NG_033038.1:g.15859T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1225A>C MANE Select ENSP00000349297.5:p.Thr409Pro
ENST00000322910.9:c.*1180A>C ENSP00000325395.5:n.*1180A>C
ENST00000350303.9:c.1159A>C ENSP00000344152.5:p.Thr387Pro
ENST00000356839.9:c.1225A>C ENSP00000349297.5:p.Thr409Pro
ENST00000542255.6:c.83A>C
ENST00000543245.6:c.1294A>C ENSP00000438689.2:p.Thr432Pro
ENST00000578579.2:n.396A>C
ENST00000578711.1:n.182A>C
ENST00000578824.5:n.641A>C
ENST00000579425.5:n.249A>C
ENST00000579546.1:c.62A>C
ENST00000583858.5:c.254A>C
ENST00000585203.6:n.433A>C
NM_000018.3:c.1225A>C NP_000009.1:p.Thr409Pro
NM_001033859.2:c.1159A>C NP_001029031.1:p.Thr387Pro
NM_001270447.1:c.1294A>C NP_001257376.1:p.Thr432Pro
NM_001270448.1:c.997A>C NP_001257377.1:p.Thr333Pro
XM_006721516.2:c.1225A>C XP_006721579.2:p.Thr409Pro
XM_011523829.1:c.1225A>C XP_011522131.1:p.Thr409Pro
XM_011523830.1:c.1225A>C XP_011522132.1:p.Thr409Pro
XR_934021.1:n.1332A>C
XR_934022.1:n.1332A>C
XR_934023.1:n.1332A>C
XM_006721516.3:c.1225A>C XP_006721579.2:p.Thr409Pro
XM_011523829.2:c.1225A>C XP_011522131.1:p.Thr409Pro
XM_011523830.2:c.1225A>C XP_011522132.1:p.Thr409Pro
XM_024450741.1:c.1225A>C XP_024306509.1:p.Thr409Pro
XR_934021.2:n.1284A>C
XR_934022.2:n.1284A>C
XR_934023.2:n.1284A>C
NM_000018.4:c.1225A>C MANE Select NP_000009.1:p.Thr409Pro
NM_001033859.3:c.1159A>C NP_001029031.1:p.Thr387Pro
NM_001270447.2:c.1294A>C NP_001257376.1:p.Thr432Pro
NM_001270448.2:c.997A>C NP_001257377.1:p.Thr333Pro