Canonical Allele Identifier: CA397724190
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071294369
gnomAD v4: 17-7222813-T-C
MyVariant Identifiers: chr17:g.7126132T>C (hg19) chr17:g.7222813T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222813T>C , CM000679.2:g.7222813T>C GRCh38
NC_000017.10:g.7126132T>C , CM000679.1:g.7126132T>C GRCh37
NC_000017.9:g.7066856T>C NCBI36
NG_007975.1:g.7980T>C
NG_008391.2:g.2238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1025T>C MANE Select ENSP00000349297.5:p.Phe342Ser
ENST00000322910.9:c.*980T>C ENSP00000325395.5:n.*980T>C
ENST00000350303.9:c.959T>C ENSP00000344152.5:p.Phe320Ser
ENST00000356839.9:c.1025T>C ENSP00000349297.5:p.Phe342Ser
ENST00000543245.6:c.1094T>C ENSP00000438689.2:p.Phe365Ser
ENST00000578824.5:n.174T>C
ENST00000581378.5:c.743T>C
ENST00000582379.1:n.409T>C
ENST00000583858.5:c.54T>C
NM_000018.3:c.1025T>C NP_000009.1:p.Phe342Ser
NM_001033859.2:c.959T>C NP_001029031.1:p.Phe320Ser
NM_001270447.1:c.1094T>C NP_001257376.1:p.Phe365Ser
NM_001270448.1:c.797T>C NP_001257377.1:p.Phe266Ser
XM_006721516.2:c.1025T>C XP_006721579.2:p.Phe342Ser
XM_011523829.1:c.1025T>C XP_011522131.1:p.Phe342Ser
XM_011523830.1:c.1025T>C XP_011522132.1:p.Phe342Ser
XR_934021.1:n.1132T>C
XR_934022.1:n.1132T>C
XR_934023.1:n.1132T>C
XM_006721516.3:c.1025T>C XP_006721579.2:p.Phe342Ser
XM_011523829.2:c.1025T>C XP_011522131.1:p.Phe342Ser
XM_011523830.2:c.1025T>C XP_011522132.1:p.Phe342Ser
XM_024450741.1:c.1025T>C XP_024306509.1:p.Phe342Ser
XR_934021.2:n.1084T>C
XR_934022.2:n.1084T>C
XR_934023.2:n.1084T>C
NM_000018.4:c.1025T>C MANE Select NP_000009.1:p.Phe342Ser
NM_001033859.3:c.959T>C NP_001029031.1:p.Phe320Ser
NM_001270447.2:c.1094T>C NP_001257376.1:p.Phe365Ser
NM_001270448.2:c.797T>C NP_001257377.1:p.Phe266Ser
Search 100 bp 5'
Search 100 bp 3'