Canonical Allele Identifier: CA397724541
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126963T>G (hg19) chr17:g.7223644T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223644T>G , CM000679.2:g.7223644T>G GRCh38
NC_000017.10:g.7126963T>G , CM000679.1:g.7126963T>G GRCh37
NC_000017.9:g.7067687T>G NCBI36
NG_007975.1:g.8811T>G
NG_008391.2:g.1407A>C
NG_033038.1:g.15901A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1183T>G MANE Select ENSP00000349297.5:p.Ser395Ala
ENST00000322910.9:c.*1138T>G ENSP00000325395.5:n.*1138T>G
ENST00000350303.9:c.1117T>G ENSP00000344152.5:p.Ser373Ala
ENST00000356839.9:c.1183T>G ENSP00000349297.5:p.Ser395Ala
ENST00000542255.6:c.41T>G
ENST00000543245.6:c.1252T>G ENSP00000438689.2:p.Ser418Ala
ENST00000578579.2:n.354T>G
ENST00000578711.1:n.140T>G
ENST00000578824.5:n.599T>G
ENST00000579425.5:n.207T>G
ENST00000579546.1:c.20T>G
ENST00000583858.5:c.212T>G
ENST00000585203.6:n.391T>G
NM_000018.3:c.1183T>G NP_000009.1:p.Ser395Ala
NM_001033859.2:c.1117T>G NP_001029031.1:p.Ser373Ala
NM_001270447.1:c.1252T>G NP_001257376.1:p.Ser418Ala
NM_001270448.1:c.955T>G NP_001257377.1:p.Ser319Ala
XM_006721516.2:c.1183T>G XP_006721579.2:p.Ser395Ala
XM_011523829.1:c.1183T>G XP_011522131.1:p.Ser395Ala
XM_011523830.1:c.1183T>G XP_011522132.1:p.Ser395Ala
XR_934021.1:n.1290T>G
XR_934022.1:n.1290T>G
XR_934023.1:n.1290T>G
XM_006721516.3:c.1183T>G XP_006721579.2:p.Ser395Ala
XM_011523829.2:c.1183T>G XP_011522131.1:p.Ser395Ala
XM_011523830.2:c.1183T>G XP_011522132.1:p.Ser395Ala
XM_024450741.1:c.1183T>G XP_024306509.1:p.Ser395Ala
XR_934021.2:n.1242T>G
XR_934022.2:n.1242T>G
XR_934023.2:n.1242T>G
NM_000018.4:c.1183T>G MANE Select NP_000009.1:p.Ser395Ala
NM_001033859.3:c.1117T>G NP_001029031.1:p.Ser373Ala
NM_001270447.2:c.1252T>G NP_001257376.1:p.Ser418Ala
NM_001270448.2:c.955T>G NP_001257377.1:p.Ser319Ala
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