Canonical Allele Identifier: CA397724578
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126979T>C (hg19) chr17:g.7223660T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223660T>C , CM000679.2:g.7223660T>C GRCh38
NC_000017.10:g.7126979T>C , CM000679.1:g.7126979T>C GRCh37
NC_000017.9:g.7067703T>C NCBI36
NG_007975.1:g.8827T>C
NG_008391.2:g.1391A>G
NG_033038.1:g.15885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1199T>C MANE Select ENSP00000349297.5:p.Val400Ala
ENST00000322910.9:c.*1154T>C ENSP00000325395.5:n.*1154T>C
ENST00000350303.9:c.1133T>C ENSP00000344152.5:p.Val378Ala
ENST00000356839.9:c.1199T>C ENSP00000349297.5:p.Val400Ala
ENST00000542255.6:c.57T>C
ENST00000543245.6:c.1268T>C ENSP00000438689.2:p.Val423Ala
ENST00000578579.2:n.370T>C
ENST00000578711.1:n.156T>C
ENST00000578824.5:n.615T>C
ENST00000579425.5:n.223T>C
ENST00000579546.1:c.36T>C
ENST00000583858.5:c.228T>C
ENST00000585203.6:n.407T>C
NM_000018.3:c.1199T>C NP_000009.1:p.Val400Ala
NM_001033859.2:c.1133T>C NP_001029031.1:p.Val378Ala
NM_001270447.1:c.1268T>C NP_001257376.1:p.Val423Ala
NM_001270448.1:c.971T>C NP_001257377.1:p.Val324Ala
XM_006721516.2:c.1199T>C XP_006721579.2:p.Val400Ala
XM_011523829.1:c.1199T>C XP_011522131.1:p.Val400Ala
XM_011523830.1:c.1199T>C XP_011522132.1:p.Val400Ala
XR_934021.1:n.1306T>C
XR_934022.1:n.1306T>C
XR_934023.1:n.1306T>C
XM_006721516.3:c.1199T>C XP_006721579.2:p.Val400Ala
XM_011523829.2:c.1199T>C XP_011522131.1:p.Val400Ala
XM_011523830.2:c.1199T>C XP_011522132.1:p.Val400Ala
XM_024450741.1:c.1199T>C XP_024306509.1:p.Val400Ala
XR_934021.2:n.1258T>C
XR_934022.2:n.1258T>C
XR_934023.2:n.1258T>C
NM_000018.4:c.1199T>C MANE Select NP_000009.1:p.Val400Ala
NM_001033859.3:c.1133T>C NP_001029031.1:p.Val378Ala
NM_001270447.2:c.1268T>C NP_001257376.1:p.Val423Ala
NM_001270448.2:c.971T>C NP_001257377.1:p.Val324Ala
Search 100 bp 5'
Search 100 bp 3'