Canonical Allele Identifier: CA8338200
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs771538229
gnomAD v2: 17-7127855-C-G
gnomAD v4: 17-7224536-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224536C>G , CM000679.2:g.7224536C>G GRCh38
NC_000017.10:g.7127855C>G , CM000679.1:g.7127855C>G GRCh37
NC_000017.9:g.7068579C>G NCBI36
NG_007975.1:g.9703C>G
NG_008391.2:g.515G>C
NG_033038.1:g.15009G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1662C>G MANE Select ENSP00000349297.5:p.His554Gln
ENST00000322910.9:c.*1617C>G ENSP00000325395.5:n.*1617C>G
ENST00000350303.9:c.1596C>G ENSP00000344152.5:p.His532Gln
ENST00000356839.9:c.1662C>G ENSP00000349297.5:p.His554Gln
ENST00000542255.6:c.520C>G
ENST00000543245.6:c.1731C>G ENSP00000438689.2:p.His577Gln
ENST00000578319.5:n.243C>G
ENST00000578711.1:n.1032C>G
ENST00000578809.5:n.234C>G
ENST00000579391.1:n.266C>G
ENST00000579425.5:n.778C>G
ENST00000579546.1:c.397C>G
ENST00000582450.1:n.170C>G
ENST00000583074.5:n.283C>G
ENST00000583848.5:c.48C>G ENSP00000466487.1:p.His16Gln
ENST00000583850.5:n.433C>G
ENST00000583858.5:c.593C>G
ENST00000585203.6:n.853C>G
NM_000018.3:c.1662C>G NP_000009.1:p.His554Gln
NM_001033859.2:c.1596C>G NP_001029031.1:p.His532Gln
NM_001270447.1:c.1731C>G NP_001257376.1:p.His577Gln
NM_001270448.1:c.1434C>G NP_001257377.1:p.His478Gln
XM_006721516.2:c.1662C>G XP_006721579.2:p.His554Gln
XM_011523829.1:c.1560C>G XP_011522131.1:p.His520Gln
XM_011523830.1:c.1560C>G XP_011522132.1:p.His520Gln
XR_934021.1:n.1765C>G
XR_934022.1:n.1671C>G
XR_934023.1:n.1671C>G
XM_006721516.3:c.1662C>G XP_006721579.2:p.His554Gln
XM_011523829.2:c.1560C>G XP_011522131.1:p.His520Gln
XM_011523830.2:c.1560C>G XP_011522132.1:p.His520Gln
XM_024450741.1:c.1650C>G XP_024306509.1:p.His550Gln
XR_934021.2:n.1717C>G
XR_934022.2:n.1623C>G
XR_934023.2:n.1623C>G
NM_000018.4:c.1662C>G MANE Select NP_000009.1:p.His554Gln
NM_001033859.3:c.1596C>G NP_001029031.1:p.His532Gln
NM_001270447.2:c.1731C>G NP_001257376.1:p.His577Gln
NM_001270448.2:c.1434C>G NP_001257377.1:p.His478Gln