Canonical Allele Identifier: CA497694367
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127557G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224238G>T , CM000679.2:g.7224238G>T GRCh38
NC_000017.10:g.7127557G>T , CM000679.1:g.7127557G>T GRCh37
NC_000017.9:g.7068281G>T NCBI36
NG_007975.1:g.9405G>T
NG_008391.2:g.813C>A
NG_033038.1:g.15307C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1527G>T MANE Select ENSP00000349297.5:p.Leu509=
ENST00000322910.9:c.*1482G>T ENSP00000325395.5:n.*1482G>T
ENST00000350303.9:c.1461G>T ENSP00000344152.5:p.Leu487=
ENST00000356839.9:c.1527G>T ENSP00000349297.5:p.Leu509=
ENST00000542255.6:c.385G>T
ENST00000543245.6:c.1596G>T ENSP00000438689.2:p.Leu532=
ENST00000578319.5:n.22G>T
ENST00000578711.1:n.734G>T
ENST00000578809.5:n.22G>T
ENST00000579391.1:n.135G>T
ENST00000579425.5:n.643G>T
ENST00000579546.1:c.272-83G>T
ENST00000579894.5:n.314G>T
ENST00000583074.5:n.154-83G>T
ENST00000583850.5:n.302G>T
ENST00000583858.5:c.464-83G>T
ENST00000585203.6:n.718G>T
NM_000018.3:c.1527G>T NP_000009.1:p.Leu509=
NM_001033859.2:c.1461G>T NP_001029031.1:p.Leu487=
NM_001270447.1:c.1596G>T NP_001257376.1:p.Leu532=
NM_001270448.1:c.1299G>T NP_001257377.1:p.Leu433=
XM_006721516.2:c.1527G>T XP_006721579.2:p.Leu509=
XM_011523829.1:c.1435-83G>T XP_011522131.1:n.1435-83G>T
XM_011523830.1:c.1435-83G>T XP_011522132.1:n.1435-83G>T
XR_934021.1:n.1634G>T
XR_934022.1:n.1542-83G>T
XR_934023.1:n.1542-83G>T
XM_006721516.3:c.1527G>T XP_006721579.2:p.Leu509=
XM_011523829.2:c.1435-83G>T XP_011522131.1:n.1435-83G>T
XM_011523830.2:c.1435-83G>T XP_011522132.1:n.1435-83G>T
XM_024450741.1:c.1435-83G>T XP_024306509.1:n.1435-83G>T
XR_934021.2:n.1586G>T
XR_934022.2:n.1494-83G>T
XR_934023.2:n.1494-83G>T
NM_000018.4:c.1527G>T MANE Select NP_000009.1:p.Leu509=
NM_001033859.3:c.1461G>T NP_001029031.1:p.Leu487=
NM_001270447.2:c.1596G>T NP_001257376.1:p.Leu532=
NM_001270448.2:c.1299G>T NP_001257377.1:p.Leu433=
Search 100 bp 5'
Search 100 bp 3'