Canonical Allele Identifier: CA2576148026
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222936-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222936G>C , CM000679.2:g.7222936G>C GRCh38
NC_000017.10:g.7126255G>C , CM000679.1:g.7126255G>C GRCh37
NC_000017.9:g.7066979G>C NCBI36
NG_007975.1:g.8103G>C
NG_008391.2:g.2115C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1077+71G>C MANE Select ENSP00000349297.5:n.1077+71G>C
ENST00000322910.9:c.*1032+71G>C ENSP00000325395.5:n.*1032+71G>C
ENST00000350303.9:c.1011+71G>C ENSP00000344152.5:n.1011+71G>C
ENST00000356839.9:c.1077+71G>C ENSP00000349297.5:n.1077+71G>C
ENST00000543245.6:c.1146+71G>C ENSP00000438689.2:n.1146+71G>C
ENST00000578824.5:n.297G>C
ENST00000582379.1:n.532G>C
ENST00000583858.5:c.106+71G>C
ENST00000585203.6:n.89G>C
NM_000018.3:c.1077+71G>C NP_000009.1:n.1077+71G>C
NM_001033859.2:c.1011+71G>C NP_001029031.1:n.1011+71G>C
NM_001270447.1:c.1146+71G>C NP_001257376.1:n.1146+71G>C
NM_001270448.1:c.849+71G>C NP_001257377.1:n.849+71G>C
XM_006721516.2:c.1077+71G>C XP_006721579.2:n.1077+71G>C
XM_011523829.1:c.1077+71G>C XP_011522131.1:n.1077+71G>C
XM_011523830.1:c.1077+71G>C XP_011522132.1:n.1077+71G>C
XR_934021.1:n.1184+71G>C
XR_934022.1:n.1184+71G>C
XR_934023.1:n.1184+71G>C
XM_006721516.3:c.1077+71G>C XP_006721579.2:n.1077+71G>C
XM_011523829.2:c.1077+71G>C XP_011522131.1:n.1077+71G>C
XM_011523830.2:c.1077+71G>C XP_011522132.1:n.1077+71G>C
XM_024450741.1:c.1077+71G>C XP_024306509.1:n.1077+71G>C
XR_934021.2:n.1136+71G>C
XR_934022.2:n.1136+71G>C
XR_934023.2:n.1136+71G>C
NM_000018.4:c.1077+71G>C MANE Select NP_000009.1:n.1077+71G>C
NM_001033859.3:c.1011+71G>C NP_001029031.1:n.1011+71G>C
NM_001270447.2:c.1146+71G>C NP_001257376.1:n.1146+71G>C
NM_001270448.2:c.849+71G>C NP_001257377.1:n.849+71G>C
Search 100 bp 5'
Search 100 bp 3'