Canonical Allele Identifier: CA497694128
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127031C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223712C>A , CM000679.2:g.7223712C>A GRCh38
NC_000017.10:g.7127031C>A , CM000679.1:g.7127031C>A GRCh37
NC_000017.9:g.7067755C>A NCBI36
NG_007975.1:g.8879C>A
NG_008391.2:g.1339G>T
NG_033038.1:g.15833G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1251C>A MANE Select ENSP00000349297.5:p.Ile417=
ENST00000322910.9:c.*1206C>A ENSP00000325395.5:n.*1206C>A
ENST00000350303.9:c.1185C>A ENSP00000344152.5:p.Ile395=
ENST00000356839.9:c.1251C>A ENSP00000349297.5:p.Ile417=
ENST00000542255.6:c.109C>A
ENST00000543245.6:c.1320C>A ENSP00000438689.2:p.Ile440=
ENST00000578579.2:n.422C>A
ENST00000578711.1:n.208C>A
ENST00000578824.5:n.667C>A
ENST00000579425.5:n.275C>A
ENST00000579546.1:c.88C>A
ENST00000583850.5:n.26C>A
ENST00000583858.5:c.280C>A
ENST00000585203.6:n.459C>A
NM_000018.3:c.1251C>A NP_000009.1:p.Ile417=
NM_001033859.2:c.1185C>A NP_001029031.1:p.Ile395=
NM_001270447.1:c.1320C>A NP_001257376.1:p.Ile440=
NM_001270448.1:c.1023C>A NP_001257377.1:p.Ile341=
XM_006721516.2:c.1251C>A XP_006721579.2:p.Ile417=
XM_011523829.1:c.1251C>A XP_011522131.1:p.Ile417=
XM_011523830.1:c.1251C>A XP_011522132.1:p.Ile417=
XR_934021.1:n.1358C>A
XR_934022.1:n.1358C>A
XR_934023.1:n.1358C>A
XM_006721516.3:c.1251C>A XP_006721579.2:p.Ile417=
XM_011523829.2:c.1251C>A XP_011522131.1:p.Ile417=
XM_011523830.2:c.1251C>A XP_011522132.1:p.Ile417=
XM_024450741.1:c.1251C>A XP_024306509.1:p.Ile417=
XR_934021.2:n.1310C>A
XR_934022.2:n.1310C>A
XR_934023.2:n.1310C>A
NM_000018.4:c.1251C>A MANE Select NP_000009.1:p.Ile417=
NM_001033859.3:c.1185C>A NP_001029031.1:p.Ile395=
NM_001270447.2:c.1320C>A NP_001257376.1:p.Ile440=
NM_001270448.2:c.1023C>A NP_001257377.1:p.Ile341=
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