Canonical Allele Identifier: CA397724990
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224014T>G , CM000679.2:g.7224014T>G GRCh38
NC_000017.10:g.7127333T>G , CM000679.1:g.7127333T>G GRCh37
NC_000017.9:g.7068057T>G NCBI36
NG_007975.1:g.9181T>G
NG_008391.2:g.1037A>C
NG_033038.1:g.15531A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1379T>G MANE Select ENSP00000349297.5:p.Ile460Ser
ENST00000322910.9:c.*1334T>G ENSP00000325395.5:n.*1334T>G
ENST00000350303.9:c.1313T>G ENSP00000344152.5:p.Ile438Ser
ENST00000356839.9:c.1379T>G ENSP00000349297.5:p.Ile460Ser
ENST00000542255.6:c.237T>G
ENST00000543245.6:c.1448T>G ENSP00000438689.2:p.Ile483Ser
ENST00000578711.1:n.510T>G
ENST00000579425.5:n.495T>G
ENST00000579546.1:c.216T>G
ENST00000579894.5:n.90T>G
ENST00000583074.5:n.98T>G
ENST00000583850.5:n.154T>G
ENST00000583858.5:c.408T>G
ENST00000585203.6:n.570T>G
NM_000018.3:c.1379T>G NP_000009.1:p.Ile460Ser
NM_001033859.2:c.1313T>G NP_001029031.1:p.Ile438Ser
NM_001270447.1:c.1448T>G NP_001257376.1:p.Ile483Ser
NM_001270448.1:c.1151T>G NP_001257377.1:p.Ile384Ser
XM_006721516.2:c.1379T>G XP_006721579.2:p.Ile460Ser
XM_011523829.1:c.1379T>G XP_011522131.1:p.Ile460Ser
XM_011523830.1:c.1379T>G XP_011522132.1:p.Ile460Ser
XR_934021.1:n.1486T>G
XR_934022.1:n.1486T>G
XR_934023.1:n.1486T>G
XM_006721516.3:c.1379T>G XP_006721579.2:p.Ile460Ser
XM_011523829.2:c.1379T>G XP_011522131.1:p.Ile460Ser
XM_011523830.2:c.1379T>G XP_011522132.1:p.Ile460Ser
XM_024450741.1:c.1379T>G XP_024306509.1:p.Ile460Ser
XR_934021.2:n.1438T>G
XR_934022.2:n.1438T>G
XR_934023.2:n.1438T>G
NM_000018.4:c.1379T>G MANE Select NP_000009.1:p.Ile460Ser
NM_001033859.3:c.1313T>G NP_001029031.1:p.Ile438Ser
NM_001270447.2:c.1448T>G NP_001257376.1:p.Ile483Ser
NM_001270448.2:c.1151T>G NP_001257377.1:p.Ile384Ser