Canonical Allele Identifier: CA497694377
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127867T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224548T>A , CM000679.2:g.7224548T>A GRCh38
NC_000017.10:g.7127867T>A , CM000679.1:g.7127867T>A GRCh37
NC_000017.9:g.7068591T>A NCBI36
NG_007975.1:g.9715T>A
NG_008391.2:g.503A>T
NG_033038.1:g.14997A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1674T>A MANE Select ENSP00000349297.5:p.Ile558=
ENST00000322910.9:c.*1629T>A ENSP00000325395.5:n.*1629T>A
ENST00000350303.9:c.1608T>A ENSP00000344152.5:p.Ile536=
ENST00000356839.9:c.1674T>A ENSP00000349297.5:p.Ile558=
ENST00000542255.6:c.532T>A
ENST00000543245.6:c.1743T>A ENSP00000438689.2:p.Ile581=
ENST00000578319.5:n.255T>A
ENST00000578711.1:n.1044T>A
ENST00000578809.5:n.246T>A
ENST00000579391.1:n.278T>A
ENST00000579425.5:n.790T>A
ENST00000579546.1:c.409T>A
ENST00000582450.1:n.182T>A
ENST00000583074.5:n.295T>A
ENST00000583848.5:c.60T>A ENSP00000466487.1:p.Ile20=
ENST00000583850.5:n.445T>A
ENST00000583858.5:c.605T>A
ENST00000585203.6:n.865T>A
NM_000018.3:c.1674T>A NP_000009.1:p.Ile558=
NM_001033859.2:c.1608T>A NP_001029031.1:p.Ile536=
NM_001270447.1:c.1743T>A NP_001257376.1:p.Ile581=
NM_001270448.1:c.1446T>A NP_001257377.1:p.Ile482=
XM_006721516.2:c.1674T>A XP_006721579.2:p.Ile558=
XM_011523829.1:c.1572T>A XP_011522131.1:p.Ile524=
XM_011523830.1:c.1572T>A XP_011522132.1:p.Ile524=
XR_934021.1:n.1777T>A
XR_934022.1:n.1683T>A
XR_934023.1:n.1683T>A
XM_006721516.3:c.1674T>A XP_006721579.2:p.Ile558=
XM_011523829.2:c.1572T>A XP_011522131.1:p.Ile524=
XM_011523830.2:c.1572T>A XP_011522132.1:p.Ile524=
XM_024450741.1:c.1662T>A XP_024306509.1:p.Ile554=
XR_934021.2:n.1729T>A
XR_934022.2:n.1635T>A
XR_934023.2:n.1635T>A
NM_000018.4:c.1674T>A MANE Select NP_000009.1:p.Ile558=
NM_001033859.3:c.1608T>A NP_001029031.1:p.Ile536=
NM_001270447.2:c.1743T>A NP_001257376.1:p.Ile581=
NM_001270448.2:c.1446T>A NP_001257377.1:p.Ile482=