Canonical Allele Identifier: CA2245714190
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1597537732

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224434G>C , CM000679.2:g.7224434G>C GRCh38
NC_000017.10:g.7127753G>C , CM000679.1:g.7127753G>C GRCh37
NC_000017.9:g.7068477G>C NCBI36
NG_007975.1:g.9601G>C
NG_008391.2:g.617C>G
NG_033038.1:g.15111C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+41G>C MANE Select ENSP00000349297.5:n.1605+41G>C
ENST00000322910.9:c.*1560+41G>C ENSP00000325395.5:n.*1560+41G>C
ENST00000350303.9:c.1539+41G>C ENSP00000344152.5:n.1539+41G>C
ENST00000356839.9:c.1605+41G>C ENSP00000349297.5:n.1605+41G>C
ENST00000542255.6:c.463+41G>C
ENST00000543245.6:c.1674+41G>C ENSP00000438689.2:n.1674+41G>C
ENST00000578319.5:n.141G>C
ENST00000578711.1:n.930G>C
ENST00000578809.5:n.177+41G>C
ENST00000579391.1:n.213+41G>C
ENST00000579425.5:n.721+41G>C
ENST00000579546.1:c.344+41G>C
ENST00000579894.5:n.392+41G>C
ENST00000582450.1:n.113+41G>C
ENST00000583074.5:n.226+41G>C
ENST00000583850.5:n.380+41G>C
ENST00000583858.5:c.536+41G>C
ENST00000585203.6:n.796+41G>C
NM_000018.3:c.1605+41G>C NP_000009.1:n.1605+41G>C
NM_001033859.2:c.1539+41G>C NP_001029031.1:n.1539+41G>C
NM_001270447.1:c.1674+41G>C NP_001257376.1:n.1674+41G>C
NM_001270448.1:c.1377+41G>C NP_001257377.1:n.1377+41G>C
XM_006721516.2:c.1605+41G>C XP_006721579.2:n.1605+41G>C
XM_011523829.1:c.1507+41G>C XP_011522131.1:n.1507+41G>C
XM_011523830.1:c.1507+41G>C XP_011522132.1:n.1507+41G>C
XR_934021.1:n.1712+41G>C
XR_934022.1:n.1614+41G>C
XR_934023.1:n.1614+41G>C
XM_006721516.3:c.1605+41G>C XP_006721579.2:n.1605+41G>C
XM_011523829.2:c.1507+41G>C XP_011522131.1:n.1507+41G>C
XM_011523830.2:c.1507+41G>C XP_011522132.1:n.1507+41G>C
XM_024450741.1:c.1548G>C XP_024306509.1:p.Leu516=
XR_934021.2:n.1664+41G>C
XR_934022.2:n.1566+41G>C
XR_934023.2:n.1566+41G>C
NM_000018.4:c.1605+41G>C MANE Select NP_000009.1:n.1605+41G>C
NM_001033859.3:c.1539+41G>C NP_001029031.1:n.1539+41G>C
NM_001270447.2:c.1674+41G>C NP_001257376.1:n.1674+41G>C
NM_001270448.2:c.1377+41G>C NP_001257377.1:n.1377+41G>C