Canonical Allele Identifier: CA397724065
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126074C>A (hg19) chr17:g.7222755C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222755C>A , CM000679.2:g.7222755C>A GRCh38
NC_000017.10:g.7126074C>A , CM000679.1:g.7126074C>A GRCh37
NC_000017.9:g.7066798C>A NCBI36
NG_007975.1:g.7922C>A
NG_008391.2:g.2296G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.967C>A MANE Select ENSP00000349297.5:p.Leu323Met
ENST00000322910.9:c.*922C>A ENSP00000325395.5:n.*922C>A
ENST00000350303.9:c.901C>A ENSP00000344152.5:p.Leu301Met
ENST00000356839.9:c.967C>A ENSP00000349297.5:p.Leu323Met
ENST00000543245.6:c.1036C>A ENSP00000438689.2:p.Leu346Met
ENST00000578824.5:n.116C>A
ENST00000581378.5:c.685C>A
ENST00000582379.1:n.351C>A
NM_000018.3:c.967C>A NP_000009.1:p.Leu323Met
NM_001033859.2:c.901C>A NP_001029031.1:p.Leu301Met
NM_001270447.1:c.1036C>A NP_001257376.1:p.Leu346Met
NM_001270448.1:c.739C>A NP_001257377.1:p.Leu247Met
XM_006721516.2:c.967C>A XP_006721579.2:p.Leu323Met
XM_011523829.1:c.967C>A XP_011522131.1:p.Leu323Met
XM_011523830.1:c.967C>A XP_011522132.1:p.Leu323Met
XR_934021.1:n.1074C>A
XR_934022.1:n.1074C>A
XR_934023.1:n.1074C>A
XM_006721516.3:c.967C>A XP_006721579.2:p.Leu323Met
XM_011523829.2:c.967C>A XP_011522131.1:p.Leu323Met
XM_011523830.2:c.967C>A XP_011522132.1:p.Leu323Met
XM_024450741.1:c.967C>A XP_024306509.1:p.Leu323Met
XR_934021.2:n.1026C>A
XR_934022.2:n.1026C>A
XR_934023.2:n.1026C>A
NM_000018.4:c.967C>A MANE Select NP_000009.1:p.Leu323Met
NM_001033859.3:c.901C>A NP_001029031.1:p.Leu301Met
NM_001270447.2:c.1036C>A NP_001257376.1:p.Leu346Met
NM_001270448.2:c.739C>A NP_001257377.1:p.Leu247Met
Search 100 bp 5'
Search 100 bp 3'