Canonical Allele Identifier: CA397725245
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127522G>T (hg19) chr17:g.7224203G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224203G>T , CM000679.2:g.7224203G>T GRCh38
NC_000017.10:g.7127522G>T , CM000679.1:g.7127522G>T GRCh37
NC_000017.9:g.7068246G>T NCBI36
NG_007975.1:g.9370G>T
NG_008391.2:g.848C>A
NG_033038.1:g.15342C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1492G>T MANE Select ENSP00000349297.5:p.Ala498Ser
ENST00000322910.9:c.*1447G>T ENSP00000325395.5:n.*1447G>T
ENST00000350303.9:c.1426G>T ENSP00000344152.5:p.Ala476Ser
ENST00000356839.9:c.1492G>T ENSP00000349297.5:p.Ala498Ser
ENST00000542255.6:c.350G>T
ENST00000543245.6:c.1561G>T ENSP00000438689.2:p.Ala521Ser
ENST00000578711.1:n.699G>T
ENST00000579391.1:n.100G>T
ENST00000579425.5:n.608G>T
ENST00000579546.1:c.272-118G>T
ENST00000579894.5:n.279G>T
ENST00000583074.5:n.154-118G>T
ENST00000583850.5:n.267G>T
ENST00000583858.5:c.464-118G>T
ENST00000585203.6:n.683G>T
NM_000018.3:c.1492G>T NP_000009.1:p.Ala498Ser
NM_001033859.2:c.1426G>T NP_001029031.1:p.Ala476Ser
NM_001270447.1:c.1561G>T NP_001257376.1:p.Ala521Ser
NM_001270448.1:c.1264G>T NP_001257377.1:p.Ala422Ser
XM_006721516.2:c.1492G>T XP_006721579.2:p.Ala498Ser
XM_011523829.1:c.1435-118G>T XP_011522131.1:n.1435-118G>T
XM_011523830.1:c.1435-118G>T XP_011522132.1:n.1435-118G>T
XR_934021.1:n.1599G>T
XR_934022.1:n.1542-118G>T
XR_934023.1:n.1542-118G>T
XM_006721516.3:c.1492G>T XP_006721579.2:p.Ala498Ser
XM_011523829.2:c.1435-118G>T XP_011522131.1:n.1435-118G>T
XM_011523830.2:c.1435-118G>T XP_011522132.1:n.1435-118G>T
XM_024450741.1:c.1435-118G>T XP_024306509.1:n.1435-118G>T
XR_934021.2:n.1551G>T
XR_934022.2:n.1494-118G>T
XR_934023.2:n.1494-118G>T
NM_000018.4:c.1492G>T MANE Select NP_000009.1:p.Ala498Ser
NM_001033859.3:c.1426G>T NP_001029031.1:p.Ala476Ser
NM_001270447.2:c.1561G>T NP_001257376.1:p.Ala521Ser
NM_001270448.2:c.1264G>T NP_001257377.1:p.Ala422Ser
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