Canonical Allele Identifier: CA397724170
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126123A>G (hg19) chr17:g.7222804A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1016A>G MANE Select ENSP00000349297.5:p.Asn339Ser
ENST00000322910.9:c.*971A>G ENSP00000325395.5:n.*971A>G
ENST00000350303.9:c.950A>G ENSP00000344152.5:p.Asn317Ser
ENST00000356839.9:c.1016A>G ENSP00000349297.5:p.Asn339Ser
ENST00000543245.6:c.1085A>G ENSP00000438689.2:p.Asn362Ser
ENST00000578824.5:n.165A>G
ENST00000581378.5:c.734A>G
ENST00000582379.1:n.400A>G
ENST00000583858.5:c.45A>G
NM_000018.3:c.1016A>G NP_000009.1:p.Asn339Ser
NM_001033859.2:c.950A>G NP_001029031.1:p.Asn317Ser
NM_001270447.1:c.1085A>G NP_001257376.1:p.Asn362Ser
NM_001270448.1:c.788A>G NP_001257377.1:p.Asn263Ser
XM_006721516.2:c.1016A>G XP_006721579.2:p.Asn339Ser
XM_011523829.1:c.1016A>G XP_011522131.1:p.Asn339Ser
XM_011523830.1:c.1016A>G XP_011522132.1:p.Asn339Ser
XR_934021.1:n.1123A>G
XR_934022.1:n.1123A>G
XR_934023.1:n.1123A>G
XM_006721516.3:c.1016A>G XP_006721579.2:p.Asn339Ser
XM_011523829.2:c.1016A>G XP_011522131.1:p.Asn339Ser
XM_011523830.2:c.1016A>G XP_011522132.1:p.Asn339Ser
XM_024450741.1:c.1016A>G XP_024306509.1:p.Asn339Ser
XR_934021.2:n.1075A>G
XR_934022.2:n.1075A>G
XR_934023.2:n.1075A>G
NM_000018.4:c.1016A>G MANE Select NP_000009.1:p.Asn339Ser
NM_001033859.3:c.950A>G NP_001029031.1:p.Asn317Ser
NM_001270447.2:c.1085A>G NP_001257376.1:p.Asn362Ser
NM_001270448.2:c.788A>G NP_001257377.1:p.Asn263Ser
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