Canonical Allele Identifier: CA397725356
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1550G>C MANE Select ENSP00000349297.5:p.Ser517Thr
ENST00000322910.9:c.*1505G>C ENSP00000325395.5:n.*1505G>C
ENST00000350303.9:c.1484G>C ENSP00000344152.5:p.Ser495Thr
ENST00000356839.9:c.1550G>C ENSP00000349297.5:p.Ser517Thr
ENST00000542255.6:c.408G>C
ENST00000543245.6:c.1619G>C ENSP00000438689.2:p.Ser540Thr
ENST00000578319.5:n.45G>C
ENST00000578711.1:n.834G>C
ENST00000578809.5:n.122G>C
ENST00000579391.1:n.158G>C
ENST00000579425.5:n.666G>C
ENST00000579546.1:c.289G>C
ENST00000579894.5:n.337G>C
ENST00000582450.1:n.58G>C
ENST00000583074.5:n.171G>C
ENST00000583850.5:n.325G>C
ENST00000583858.5:c.481G>C
ENST00000585203.6:n.741G>C
NM_000018.3:c.1550G>C NP_000009.1:p.Ser517Thr
NM_001033859.2:c.1484G>C NP_001029031.1:p.Ser495Thr
NM_001270447.1:c.1619G>C NP_001257376.1:p.Ser540Thr
NM_001270448.1:c.1322G>C NP_001257377.1:p.Ser441Thr
XM_006721516.2:c.1550G>C XP_006721579.2:p.Ser517Thr
XM_011523829.1:c.1452G>C XP_011522131.1:p.Gln484His
XM_011523830.1:c.1452G>C XP_011522132.1:p.Gln484His
XR_934021.1:n.1657G>C
XR_934022.1:n.1559G>C
XR_934023.1:n.1559G>C
XM_006721516.3:c.1550G>C XP_006721579.2:p.Ser517Thr
XM_011523829.2:c.1452G>C XP_011522131.1:p.Gln484His
XM_011523830.2:c.1452G>C XP_011522132.1:p.Gln484His
XM_024450741.1:c.1452G>C XP_024306509.1:p.Gln484His
XR_934021.2:n.1609G>C
XR_934022.2:n.1511G>C
XR_934023.2:n.1511G>C
NM_000018.4:c.1550G>C MANE Select NP_000009.1:p.Ser517Thr
NM_001033859.3:c.1484G>C NP_001029031.1:p.Ser495Thr
NM_001270447.2:c.1619G>C NP_001257376.1:p.Ser540Thr
NM_001270448.2:c.1322G>C NP_001257377.1:p.Ser441Thr