Canonical Allele Identifier: CA397724861
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223863G>T , CM000679.2:g.7223863G>T GRCh38
NC_000017.10:g.7127182G>T , CM000679.1:g.7127182G>T GRCh37
NC_000017.9:g.7067906G>T NCBI36
NG_007975.1:g.9030G>T
NG_008391.2:g.1188C>A
NG_033038.1:g.15682C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1320G>T MANE Select ENSP00000349297.5:p.Met440Ile
ENST00000322910.9:c.*1275G>T ENSP00000325395.5:n.*1275G>T
ENST00000350303.9:c.1254G>T ENSP00000344152.5:p.Met418Ile
ENST00000356839.9:c.1320G>T ENSP00000349297.5:p.Met440Ile
ENST00000542255.6:c.178G>T
ENST00000543245.6:c.1389G>T ENSP00000438689.2:p.Met463Ile
ENST00000578711.1:n.359G>T
ENST00000579425.5:n.344G>T
ENST00000579546.1:c.157G>T
ENST00000583074.5:n.39G>T
ENST00000583850.5:n.95G>T
ENST00000583858.5:c.349G>T
ENST00000585203.6:n.523+5G>T
NM_000018.3:c.1320G>T NP_000009.1:p.Met440Ile
NM_001033859.2:c.1254G>T NP_001029031.1:p.Met418Ile
NM_001270447.1:c.1389G>T NP_001257376.1:p.Met463Ile
NM_001270448.1:c.1092G>T NP_001257377.1:p.Met364Ile
XM_006721516.2:c.1320G>T XP_006721579.2:p.Met440Ile
XM_011523829.1:c.1320G>T XP_011522131.1:p.Met440Ile
XM_011523830.1:c.1320G>T XP_011522132.1:p.Met440Ile
XR_934021.1:n.1427G>T
XR_934022.1:n.1427G>T
XR_934023.1:n.1427G>T
XM_006721516.3:c.1320G>T XP_006721579.2:p.Met440Ile
XM_011523829.2:c.1320G>T XP_011522131.1:p.Met440Ile
XM_011523830.2:c.1320G>T XP_011522132.1:p.Met440Ile
XM_024450741.1:c.1320G>T XP_024306509.1:p.Met440Ile
XR_934021.2:n.1379G>T
XR_934022.2:n.1379G>T
XR_934023.2:n.1379G>T
NM_000018.4:c.1320G>T MANE Select NP_000009.1:p.Met440Ile
NM_001033859.3:c.1254G>T NP_001029031.1:p.Met418Ile
NM_001270447.2:c.1389G>T NP_001257376.1:p.Met463Ile
NM_001270448.2:c.1092G>T NP_001257377.1:p.Met364Ile