Canonical Allele Identifier: CA497694301
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127530C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224211C>A , CM000679.2:g.7224211C>A GRCh38
NC_000017.10:g.7127530C>A , CM000679.1:g.7127530C>A GRCh37
NC_000017.9:g.7068254C>A NCBI36
NG_007975.1:g.9378C>A
NG_008391.2:g.840G>T
NG_033038.1:g.15334G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1500C>A MANE Select ENSP00000349297.5:p.Leu500=
ENST00000322910.9:c.*1455C>A ENSP00000325395.5:n.*1455C>A
ENST00000350303.9:c.1434C>A ENSP00000344152.5:p.Leu478=
ENST00000356839.9:c.1500C>A ENSP00000349297.5:p.Leu500=
ENST00000542255.6:c.358C>A
ENST00000543245.6:c.1569C>A ENSP00000438689.2:p.Leu523=
ENST00000578711.1:n.707C>A
ENST00000579391.1:n.108C>A
ENST00000579425.5:n.616C>A
ENST00000579546.1:c.272-110C>A
ENST00000579894.5:n.287C>A
ENST00000583074.5:n.154-110C>A
ENST00000583850.5:n.275C>A
ENST00000583858.5:c.464-110C>A
ENST00000585203.6:n.691C>A
NM_000018.3:c.1500C>A NP_000009.1:p.Leu500=
NM_001033859.2:c.1434C>A NP_001029031.1:p.Leu478=
NM_001270447.1:c.1569C>A NP_001257376.1:p.Leu523=
NM_001270448.1:c.1272C>A NP_001257377.1:p.Leu424=
XM_006721516.2:c.1500C>A XP_006721579.2:p.Leu500=
XM_011523829.1:c.1435-110C>A XP_011522131.1:n.1435-110C>A
XM_011523830.1:c.1435-110C>A XP_011522132.1:n.1435-110C>A
XR_934021.1:n.1607C>A
XR_934022.1:n.1542-110C>A
XR_934023.1:n.1542-110C>A
XM_006721516.3:c.1500C>A XP_006721579.2:p.Leu500=
XM_011523829.2:c.1435-110C>A XP_011522131.1:n.1435-110C>A
XM_011523830.2:c.1435-110C>A XP_011522132.1:n.1435-110C>A
XM_024450741.1:c.1435-110C>A XP_024306509.1:n.1435-110C>A
XR_934021.2:n.1559C>A
XR_934022.2:n.1494-110C>A
XR_934023.2:n.1494-110C>A
NM_000018.4:c.1500C>A MANE Select NP_000009.1:p.Leu500=
NM_001033859.3:c.1434C>A NP_001029031.1:p.Leu478=
NM_001270447.2:c.1569C>A NP_001257376.1:p.Leu523=
NM_001270448.2:c.1272C>A NP_001257377.1:p.Leu424=
Search 100 bp 5'
Search 100 bp 3'