Canonical Allele Identifier: CA287436179
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs888791875

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221522C>G , CM000679.2:g.7221522C>G GRCh38
NC_000017.10:g.7124841C>G , CM000679.1:g.7124841C>G GRCh37
NC_000017.9:g.7065565C>G NCBI36
NG_007975.1:g.6689C>G
NG_008391.2:g.3529G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-16C>G MANE Select ENSP00000349297.5:p.=
ENST00000322910.9:c.*433-16C>G ENSP00000325395.5:p.=
ENST00000350303.9:c.412-16C>G ENSP00000344152.5:p.=
ENST00000356839.9:c.478-16C>G ENSP00000349297.5:p.=
ENST00000543245.6:c.547-16C>G ENSP00000438689.2:p.=
ENST00000577191.5:n.555-16C>G
ENST00000577433.5:n.686-16C>G
ENST00000577857.5:n.294-16C>G
ENST00000579286.5:n.659-16C>G
ENST00000579886.2:c.316-16C>G ENSP00000463246.1:p.=
ENST00000580365.1:n.209-16C>G
ENST00000581378.5:n.180C>G
ENST00000581562.5:n.525-430C>G
ENST00000582166.1:n.459-16C>G
ENST00000583312.5:c.478-16C>G ENSP00000467920.1:p.=
ENST00000583760.1:n.244C>G
NM_000018.3:c.478-16C>G NP_000009.1:p.=
NM_001033859.2:c.412-16C>G NP_001029031.1:p.=
NM_001270447.1:c.547-16C>G NP_001257376.1:p.=
NM_001270448.1:c.250-16C>G NP_001257377.1:p.=
XM_006721516.2:c.478-16C>G XP_006721579.2:p.=
XM_011523829.1:c.478-16C>G XP_011522131.1:p.=
XM_011523830.1:c.478-16C>G XP_011522132.1:p.=
XR_934021.1:n.585-16C>G
XR_934022.1:n.585-16C>G
XR_934023.1:n.585-16C>G
XM_006721516.3:c.478-16C>G XP_006721579.2:p.=
XM_011523829.2:c.478-16C>G XP_011522131.1:p.=
XM_011523830.2:c.478-16C>G XP_011522132.1:p.=
XM_024450741.1:c.478-16C>G XP_024306509.1:p.=
XR_934021.2:n.537-16C>G
XR_934022.2:n.537-16C>G
XR_934023.2:n.537-16C>G
NM_000018.4:c.478-16C>G MANE Select NP_000009.1:p.=
NM_001033859.3:c.412-16C>G NP_001029031.1:p.=
NM_001270447.2:c.547-16C>G NP_001257376.1:p.=
NM_001270448.2:c.250-16C>G NP_001257377.1:p.=