Canonical Allele Identifier: CA397725405
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224362T>G , CM000679.2:g.7224362T>G GRCh38
NC_000017.10:g.7127681T>G , CM000679.1:g.7127681T>G GRCh37
NC_000017.9:g.7068405T>G NCBI36
NG_007975.1:g.9529T>G
NG_008391.2:g.689A>C
NG_033038.1:g.15183A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1574T>G MANE Select ENSP00000349297.5:p.Val525Gly
ENST00000322910.9:c.*1529T>G ENSP00000325395.5:n.*1529T>G
ENST00000350303.9:c.1508T>G ENSP00000344152.5:p.Val503Gly
ENST00000356839.9:c.1574T>G ENSP00000349297.5:p.Val525Gly
ENST00000542255.6:c.432T>G
ENST00000543245.6:c.1643T>G ENSP00000438689.2:p.Val548Gly
ENST00000578319.5:n.69T>G
ENST00000578711.1:n.858T>G
ENST00000578809.5:n.146T>G
ENST00000579391.1:n.182T>G
ENST00000579425.5:n.690T>G
ENST00000579546.1:c.313T>G
ENST00000579894.5:n.361T>G
ENST00000582450.1:n.82T>G
ENST00000583074.5:n.195T>G
ENST00000583850.5:n.349T>G
ENST00000583858.5:c.505T>G
ENST00000585203.6:n.765T>G
NM_000018.3:c.1574T>G NP_000009.1:p.Val525Gly
NM_001033859.2:c.1508T>G NP_001029031.1:p.Val503Gly
NM_001270447.1:c.1643T>G NP_001257376.1:p.Val548Gly
NM_001270448.1:c.1346T>G NP_001257377.1:p.Val449Gly
XM_006721516.2:c.1574T>G XP_006721579.2:p.Val525Gly
XM_011523829.1:c.1476T>G XP_011522131.1:p.Cys492Trp
XM_011523830.1:c.1476T>G XP_011522132.1:p.Cys492Trp
XR_934021.1:n.1681T>G
XR_934022.1:n.1583T>G
XR_934023.1:n.1583T>G
XM_006721516.3:c.1574T>G XP_006721579.2:p.Val525Gly
XM_011523829.2:c.1476T>G XP_011522131.1:p.Cys492Trp
XM_011523830.2:c.1476T>G XP_011522132.1:p.Cys492Trp
XM_024450741.1:c.1476T>G XP_024306509.1:p.Cys492Trp
XR_934021.2:n.1633T>G
XR_934022.2:n.1535T>G
XR_934023.2:n.1535T>G
NM_000018.4:c.1574T>G MANE Select NP_000009.1:p.Val525Gly
NM_001033859.3:c.1508T>G NP_001029031.1:p.Val503Gly
NM_001270447.2:c.1643T>G NP_001257376.1:p.Val548Gly
NM_001270448.2:c.1346T>G NP_001257377.1:p.Val449Gly