Canonical Allele Identifier: CA8338170
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 736724
ClinVar RCV Id: RCV000912405 RCV001274805
dbSNP Id: rs572010910
ExAC: 17:7127719 G / C
gnomAD v2: 17-7127719-G-C
gnomAD v3: 17-7224400-G-C
gnomAD v4: 17-7224400-G-C
MyVariant Identifiers: chr17:g.7127719G>C (hg19) chr17:g.7224400G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224400G>C , CM000679.2:g.7224400G>C GRCh38
NC_000017.10:g.7127719G>C , CM000679.1:g.7127719G>C GRCh37
NC_000017.9:g.7068443G>C NCBI36
NG_007975.1:g.9567G>C
NG_008391.2:g.651C>G
NG_033038.1:g.15145C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+7G>C MANE Select ENSP00000349297.5:n.1605+7G>C
ENST00000322910.9:c.*1560+7G>C ENSP00000325395.5:n.*1560+7G>C
ENST00000350303.9:c.1539+7G>C ENSP00000344152.5:n.1539+7G>C
ENST00000356839.9:c.1605+7G>C ENSP00000349297.5:n.1605+7G>C
ENST00000542255.6:c.463+7G>C
ENST00000543245.6:c.1674+7G>C ENSP00000438689.2:n.1674+7G>C
ENST00000578319.5:n.107G>C
ENST00000578711.1:n.896G>C
ENST00000578809.5:n.177+7G>C
ENST00000579391.1:n.213+7G>C
ENST00000579425.5:n.721+7G>C
ENST00000579546.1:c.344+7G>C
ENST00000579894.5:n.392+7G>C
ENST00000582450.1:n.113+7G>C
ENST00000583074.5:n.226+7G>C
ENST00000583850.5:n.380+7G>C
ENST00000583858.5:c.536+7G>C
ENST00000585203.6:n.796+7G>C
NM_000018.3:c.1605+7G>C NP_000009.1:n.1605+7G>C
NM_001033859.2:c.1539+7G>C NP_001029031.1:n.1539+7G>C
NM_001270447.1:c.1674+7G>C NP_001257376.1:n.1674+7G>C
NM_001270448.1:c.1377+7G>C NP_001257377.1:n.1377+7G>C
XM_006721516.2:c.1605+7G>C XP_006721579.2:n.1605+7G>C
XM_011523829.1:c.1507+7G>C XP_011522131.1:n.1507+7G>C
XM_011523830.1:c.1507+7G>C XP_011522132.1:n.1507+7G>C
XR_934021.1:n.1712+7G>C
XR_934022.1:n.1614+7G>C
XR_934023.1:n.1614+7G>C
XM_006721516.3:c.1605+7G>C XP_006721579.2:n.1605+7G>C
XM_011523829.2:c.1507+7G>C XP_011522131.1:n.1507+7G>C
XM_011523830.2:c.1507+7G>C XP_011522132.1:n.1507+7G>C
XM_024450741.1:c.1514G>C XP_024306509.1:p.Trp505Ser
XR_934021.2:n.1664+7G>C
XR_934022.2:n.1566+7G>C
XR_934023.2:n.1566+7G>C
NM_000018.4:c.1605+7G>C MANE Select NP_000009.1:n.1605+7G>C
NM_001033859.3:c.1539+7G>C NP_001029031.1:n.1539+7G>C
NM_001270447.2:c.1674+7G>C NP_001257376.1:n.1674+7G>C
NM_001270448.2:c.1377+7G>C NP_001257377.1:n.1377+7G>C
Search 100 bp 5'
Search 100 bp 3'