Canonical Allele Identifier: CA397724169
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126123A>C (hg19) chr17:g.7222804A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222804A>C , CM000679.2:g.7222804A>C GRCh38
NC_000017.10:g.7126123A>C , CM000679.1:g.7126123A>C GRCh37
NC_000017.9:g.7066847A>C NCBI36
NG_007975.1:g.7971A>C
NG_008391.2:g.2247T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1016A>C MANE Select ENSP00000349297.5:p.Asn339Thr
ENST00000322910.9:c.*971A>C ENSP00000325395.5:n.*971A>C
ENST00000350303.9:c.950A>C ENSP00000344152.5:p.Asn317Thr
ENST00000356839.9:c.1016A>C ENSP00000349297.5:p.Asn339Thr
ENST00000543245.6:c.1085A>C ENSP00000438689.2:p.Asn362Thr
ENST00000578824.5:n.165A>C
ENST00000581378.5:c.734A>C
ENST00000582379.1:n.400A>C
ENST00000583858.5:c.45A>C
NM_000018.3:c.1016A>C NP_000009.1:p.Asn339Thr
NM_001033859.2:c.950A>C NP_001029031.1:p.Asn317Thr
NM_001270447.1:c.1085A>C NP_001257376.1:p.Asn362Thr
NM_001270448.1:c.788A>C NP_001257377.1:p.Asn263Thr
XM_006721516.2:c.1016A>C XP_006721579.2:p.Asn339Thr
XM_011523829.1:c.1016A>C XP_011522131.1:p.Asn339Thr
XM_011523830.1:c.1016A>C XP_011522132.1:p.Asn339Thr
XR_934021.1:n.1123A>C
XR_934022.1:n.1123A>C
XR_934023.1:n.1123A>C
XM_006721516.3:c.1016A>C XP_006721579.2:p.Asn339Thr
XM_011523829.2:c.1016A>C XP_011522131.1:p.Asn339Thr
XM_011523830.2:c.1016A>C XP_011522132.1:p.Asn339Thr
XM_024450741.1:c.1016A>C XP_024306509.1:p.Asn339Thr
XR_934021.2:n.1075A>C
XR_934022.2:n.1075A>C
XR_934023.2:n.1075A>C
NM_000018.4:c.1016A>C MANE Select NP_000009.1:p.Asn339Thr
NM_001033859.3:c.950A>C NP_001029031.1:p.Asn317Thr
NM_001270447.2:c.1085A>C NP_001257376.1:p.Asn362Thr
NM_001270448.2:c.788A>C NP_001257377.1:p.Asn263Thr
Search 100 bp 5'
Search 100 bp 3'