Canonical Allele Identifier: CA397725357
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224338G>T , CM000679.2:g.7224338G>T GRCh38
NC_000017.10:g.7127657G>T , CM000679.1:g.7127657G>T GRCh37
NC_000017.9:g.7068381G>T NCBI36
NG_007975.1:g.9505G>T
NG_008391.2:g.713C>A
NG_033038.1:g.15207C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1550G>T MANE Select ENSP00000349297.5:p.Ser517Ile
ENST00000322910.9:c.*1505G>T ENSP00000325395.5:n.*1505G>T
ENST00000350303.9:c.1484G>T ENSP00000344152.5:p.Ser495Ile
ENST00000356839.9:c.1550G>T ENSP00000349297.5:p.Ser517Ile
ENST00000542255.6:c.408G>T
ENST00000543245.6:c.1619G>T ENSP00000438689.2:p.Ser540Ile
ENST00000578319.5:n.45G>T
ENST00000578711.1:n.834G>T
ENST00000578809.5:n.122G>T
ENST00000579391.1:n.158G>T
ENST00000579425.5:n.666G>T
ENST00000579546.1:c.289G>T
ENST00000579894.5:n.337G>T
ENST00000582450.1:n.58G>T
ENST00000583074.5:n.171G>T
ENST00000583850.5:n.325G>T
ENST00000583858.5:c.481G>T
ENST00000585203.6:n.741G>T
NM_000018.3:c.1550G>T NP_000009.1:p.Ser517Ile
NM_001033859.2:c.1484G>T NP_001029031.1:p.Ser495Ile
NM_001270447.1:c.1619G>T NP_001257376.1:p.Ser540Ile
NM_001270448.1:c.1322G>T NP_001257377.1:p.Ser441Ile
XM_006721516.2:c.1550G>T XP_006721579.2:p.Ser517Ile
XM_011523829.1:c.1452G>T XP_011522131.1:p.Gln484His
XM_011523830.1:c.1452G>T XP_011522132.1:p.Gln484His
XR_934021.1:n.1657G>T
XR_934022.1:n.1559G>T
XR_934023.1:n.1559G>T
XM_006721516.3:c.1550G>T XP_006721579.2:p.Ser517Ile
XM_011523829.2:c.1452G>T XP_011522131.1:p.Gln484His
XM_011523830.2:c.1452G>T XP_011522132.1:p.Gln484His
XM_024450741.1:c.1452G>T XP_024306509.1:p.Gln484His
XR_934021.2:n.1609G>T
XR_934022.2:n.1511G>T
XR_934023.2:n.1511G>T
NM_000018.4:c.1550G>T MANE Select NP_000009.1:p.Ser517Ile
NM_001033859.3:c.1484G>T NP_001029031.1:p.Ser495Ile
NM_001270447.2:c.1619G>T NP_001257376.1:p.Ser540Ile
NM_001270448.2:c.1322G>T NP_001257377.1:p.Ser441Ile