Canonical Allele Identifier: CA397725065
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127369T>G (hg19) chr17:g.7224050T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224050T>G , CM000679.2:g.7224050T>G GRCh38
NC_000017.10:g.7127369T>G , CM000679.1:g.7127369T>G GRCh37
NC_000017.9:g.7068093T>G NCBI36
NG_007975.1:g.9217T>G
NG_008391.2:g.1001A>C
NG_033038.1:g.15495A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1415T>G MANE Select ENSP00000349297.5:p.Val472Gly
ENST00000322910.9:c.*1370T>G ENSP00000325395.5:n.*1370T>G
ENST00000350303.9:c.1349T>G ENSP00000344152.5:p.Val450Gly
ENST00000356839.9:c.1415T>G ENSP00000349297.5:p.Val472Gly
ENST00000542255.6:c.273T>G
ENST00000543245.6:c.1484T>G ENSP00000438689.2:p.Val495Gly
ENST00000578711.1:n.546T>G
ENST00000579425.5:n.531T>G
ENST00000579546.1:c.252T>G
ENST00000579894.5:n.126T>G
ENST00000583074.5:n.134T>G
ENST00000583850.5:n.190T>G
ENST00000583858.5:c.444T>G
ENST00000585203.6:n.606T>G
NM_000018.3:c.1415T>G NP_000009.1:p.Val472Gly
NM_001033859.2:c.1349T>G NP_001029031.1:p.Val450Gly
NM_001270447.1:c.1484T>G NP_001257376.1:p.Val495Gly
NM_001270448.1:c.1187T>G NP_001257377.1:p.Val396Gly
XM_006721516.2:c.1415T>G XP_006721579.2:p.Val472Gly
XM_011523829.1:c.1415T>G XP_011522131.1:p.Val472Gly
XM_011523830.1:c.1415T>G XP_011522132.1:p.Val472Gly
XR_934021.1:n.1522T>G
XR_934022.1:n.1522T>G
XR_934023.1:n.1522T>G
XM_006721516.3:c.1415T>G XP_006721579.2:p.Val472Gly
XM_011523829.2:c.1415T>G XP_011522131.1:p.Val472Gly
XM_011523830.2:c.1415T>G XP_011522132.1:p.Val472Gly
XM_024450741.1:c.1415T>G XP_024306509.1:p.Val472Gly
XR_934021.2:n.1474T>G
XR_934022.2:n.1474T>G
XR_934023.2:n.1474T>G
NM_000018.4:c.1415T>G MANE Select NP_000009.1:p.Val472Gly
NM_001033859.3:c.1349T>G NP_001029031.1:p.Val450Gly
NM_001270447.2:c.1484T>G NP_001257376.1:p.Val495Gly
NM_001270448.2:c.1187T>G NP_001257377.1:p.Val396Gly
Search 100 bp 5'
Search 100 bp 3'