Canonical Allele Identifier: CA497694411
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127655C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224336C>T , CM000679.2:g.7224336C>T GRCh38
NC_000017.10:g.7127655C>T , CM000679.1:g.7127655C>T GRCh37
NC_000017.9:g.7068379C>T NCBI36
NG_007975.1:g.9503C>T
NG_008391.2:g.715G>A
NG_033038.1:g.15209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1548C>T MANE Select ENSP00000349297.5:p.Gly516=
ENST00000322910.9:c.*1503C>T ENSP00000325395.5:n.*1503C>T
ENST00000350303.9:c.1482C>T ENSP00000344152.5:p.Gly494=
ENST00000356839.9:c.1548C>T ENSP00000349297.5:p.Gly516=
ENST00000542255.6:c.406C>T
ENST00000543245.6:c.1617C>T ENSP00000438689.2:p.Gly539=
ENST00000578319.5:n.43C>T
ENST00000578711.1:n.832C>T
ENST00000578809.5:n.120C>T
ENST00000579391.1:n.156C>T
ENST00000579425.5:n.664C>T
ENST00000579546.1:c.287C>T
ENST00000579894.5:n.335C>T
ENST00000582450.1:n.56C>T
ENST00000583074.5:n.169C>T
ENST00000583850.5:n.323C>T
ENST00000583858.5:c.479C>T
ENST00000585203.6:n.739C>T
NM_000018.3:c.1548C>T NP_000009.1:p.Gly516=
NM_001033859.2:c.1482C>T NP_001029031.1:p.Gly494=
NM_001270447.1:c.1617C>T NP_001257376.1:p.Gly539=
NM_001270448.1:c.1320C>T NP_001257377.1:p.Gly440=
XM_006721516.2:c.1548C>T XP_006721579.2:p.Gly516=
XM_011523829.1:c.1450C>T XP_011522131.1:p.Gln484Ter
XM_011523830.1:c.1450C>T XP_011522132.1:p.Gln484Ter
XR_934021.1:n.1655C>T
XR_934022.1:n.1557C>T
XR_934023.1:n.1557C>T
XM_006721516.3:c.1548C>T XP_006721579.2:p.Gly516=
XM_011523829.2:c.1450C>T XP_011522131.1:p.Gln484Ter
XM_011523830.2:c.1450C>T XP_011522132.1:p.Gln484Ter
XM_024450741.1:c.1450C>T XP_024306509.1:p.Gln484Ter
XR_934021.2:n.1607C>T
XR_934022.2:n.1509C>T
XR_934023.2:n.1509C>T
NM_000018.4:c.1548C>T MANE Select NP_000009.1:p.Gly516=
NM_001033859.3:c.1482C>T NP_001029031.1:p.Gly494=
NM_001270447.2:c.1617C>T NP_001257376.1:p.Gly539=
NM_001270448.2:c.1320C>T NP_001257377.1:p.Gly440=
Search 100 bp 5'
Search 100 bp 3'