Canonical Allele Identifier: CA497620264
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126148C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222829C>T , CM000679.2:g.7222829C>T GRCh38
NC_000017.10:g.7126148C>T , CM000679.1:g.7126148C>T GRCh37
NC_000017.9:g.7066872C>T NCBI36
NG_007975.1:g.7996C>T
NG_008391.2:g.2222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1041C>T MANE Select ENSP00000349297.5:p.Ala347=
ENST00000322910.9:c.*996C>T ENSP00000325395.5:n.*996C>T
ENST00000350303.9:c.975C>T ENSP00000344152.5:p.Ala325=
ENST00000356839.9:c.1041C>T ENSP00000349297.5:p.Ala347=
ENST00000543245.6:c.1110C>T ENSP00000438689.2:p.Ala370=
ENST00000578824.5:n.190C>T
ENST00000582379.1:n.425C>T
ENST00000583858.5:c.70C>T
NM_000018.3:c.1041C>T NP_000009.1:p.Ala347=
NM_001033859.2:c.975C>T NP_001029031.1:p.Ala325=
NM_001270447.1:c.1110C>T NP_001257376.1:p.Ala370=
NM_001270448.1:c.813C>T NP_001257377.1:p.Ala271=
XM_006721516.2:c.1041C>T XP_006721579.2:p.Ala347=
XM_011523829.1:c.1041C>T XP_011522131.1:p.Ala347=
XM_011523830.1:c.1041C>T XP_011522132.1:p.Ala347=
XR_934021.1:n.1148C>T
XR_934022.1:n.1148C>T
XR_934023.1:n.1148C>T
XM_006721516.3:c.1041C>T XP_006721579.2:p.Ala347=
XM_011523829.2:c.1041C>T XP_011522131.1:p.Ala347=
XM_011523830.2:c.1041C>T XP_011522132.1:p.Ala347=
XM_024450741.1:c.1041C>T XP_024306509.1:p.Ala347=
XR_934021.2:n.1100C>T
XR_934022.2:n.1100C>T
XR_934023.2:n.1100C>T
NM_000018.4:c.1041C>T MANE Select NP_000009.1:p.Ala347=
NM_001033859.3:c.975C>T NP_001029031.1:p.Ala325=
NM_001270447.2:c.1110C>T NP_001257376.1:p.Ala370=
NM_001270448.2:c.813C>T NP_001257377.1:p.Ala271=
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