Canonical Allele Identifier: CA497694402
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224331-C-T
MyVariant Identifiers: chr17:g.7127650C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224331C>T , CM000679.2:g.7224331C>T GRCh38
NC_000017.10:g.7127650C>T , CM000679.1:g.7127650C>T GRCh37
NC_000017.9:g.7068374C>T NCBI36
NG_007975.1:g.9498C>T
NG_008391.2:g.720G>A
NG_033038.1:g.15214G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1543C>T MANE Select ENSP00000349297.5:p.Leu515=
ENST00000322910.9:c.*1498C>T ENSP00000325395.5:n.*1498C>T
ENST00000350303.9:c.1477C>T ENSP00000344152.5:p.Leu493=
ENST00000356839.9:c.1543C>T ENSP00000349297.5:p.Leu515=
ENST00000542255.6:c.401C>T
ENST00000543245.6:c.1612C>T ENSP00000438689.2:p.Leu538=
ENST00000578319.5:n.38C>T
ENST00000578711.1:n.827C>T
ENST00000578809.5:n.115C>T
ENST00000579391.1:n.151C>T
ENST00000579425.5:n.659C>T
ENST00000579546.1:c.282C>T
ENST00000579894.5:n.330C>T
ENST00000582450.1:n.51C>T
ENST00000583074.5:n.164C>T
ENST00000583850.5:n.318C>T
ENST00000583858.5:c.474C>T
ENST00000585203.6:n.734C>T
NM_000018.3:c.1543C>T NP_000009.1:p.Leu515=
NM_001033859.2:c.1477C>T NP_001029031.1:p.Leu493=
NM_001270447.1:c.1612C>T NP_001257376.1:p.Leu538=
NM_001270448.1:c.1315C>T NP_001257377.1:p.Leu439=
XM_006721516.2:c.1543C>T XP_006721579.2:p.Leu515=
XM_011523829.1:c.1445C>T XP_011522131.1:p.Ala482Val
XM_011523830.1:c.1445C>T XP_011522132.1:p.Ala482Val
XR_934021.1:n.1650C>T
XR_934022.1:n.1552C>T
XR_934023.1:n.1552C>T
XM_006721516.3:c.1543C>T XP_006721579.2:p.Leu515=
XM_011523829.2:c.1445C>T XP_011522131.1:p.Ala482Val
XM_011523830.2:c.1445C>T XP_011522132.1:p.Ala482Val
XM_024450741.1:c.1445C>T XP_024306509.1:p.Ala482Val
XR_934021.2:n.1602C>T
XR_934022.2:n.1504C>T
XR_934023.2:n.1504C>T
NM_000018.4:c.1543C>T MANE Select NP_000009.1:p.Leu515=
NM_001033859.3:c.1477C>T NP_001029031.1:p.Leu493=
NM_001270447.2:c.1612C>T NP_001257376.1:p.Leu538=
NM_001270448.2:c.1315C>T NP_001257377.1:p.Leu439=
Search 100 bp 5'
Search 100 bp 3'