Canonical Allele Identifier: CA287439577
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs774829949
MyVariant Identifiers: chr17:g.7223903G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223903G>C , CM000679.2:g.7223903G>C GRCh38
NC_000017.10:g.7127222G>C , CM000679.1:g.7127222G>C GRCh37
NC_000017.9:g.7067946G>C NCBI36
NG_007975.1:g.9070G>C
NG_008391.2:g.1148C>G
NG_033038.1:g.15642C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1332+28G>C MANE Select ENSP00000349297.5:n.1332+28G>C
ENST00000322910.9:c.*1287+28G>C ENSP00000325395.5:n.*1287+28G>C
ENST00000350303.9:c.1266+28G>C ENSP00000344152.5:n.1266+28G>C
ENST00000356839.9:c.1332+28G>C ENSP00000349297.5:n.1332+28G>C
ENST00000542255.6:c.190+28G>C
ENST00000543245.6:c.1401+28G>C ENSP00000438689.2:n.1401+28G>C
ENST00000578711.1:n.399G>C
ENST00000579425.5:n.384G>C
ENST00000579546.1:c.169+28G>C
ENST00000583074.5:n.51+28G>C
ENST00000583850.5:n.107+28G>C
ENST00000583858.5:c.361+28G>C
ENST00000585203.6:n.523+45G>C
NM_000018.3:c.1332+28G>C NP_000009.1:n.1332+28G>C
NM_001033859.2:c.1266+28G>C NP_001029031.1:n.1266+28G>C
NM_001270447.1:c.1401+28G>C NP_001257376.1:n.1401+28G>C
NM_001270448.1:c.1104+28G>C NP_001257377.1:n.1104+28G>C
XM_006721516.2:c.1332+28G>C XP_006721579.2:n.1332+28G>C
XM_011523829.1:c.1332+28G>C XP_011522131.1:n.1332+28G>C
XM_011523830.1:c.1332+28G>C XP_011522132.1:n.1332+28G>C
XR_934021.1:n.1439+28G>C
XR_934022.1:n.1439+28G>C
XR_934023.1:n.1439+28G>C
XM_006721516.3:c.1332+28G>C XP_006721579.2:n.1332+28G>C
XM_011523829.2:c.1332+28G>C XP_011522131.1:n.1332+28G>C
XM_011523830.2:c.1332+28G>C XP_011522132.1:n.1332+28G>C
XM_024450741.1:c.1332+28G>C XP_024306509.1:n.1332+28G>C
XR_934021.2:n.1391+28G>C
XR_934022.2:n.1391+28G>C
XR_934023.2:n.1391+28G>C
NM_000018.4:c.1332+28G>C MANE Select NP_000009.1:n.1332+28G>C
NM_001033859.3:c.1266+28G>C NP_001029031.1:n.1266+28G>C
NM_001270447.2:c.1401+28G>C NP_001257376.1:n.1401+28G>C
NM_001270448.2:c.1104+28G>C NP_001257377.1:n.1104+28G>C