Canonical Allele Identifier: CA397726088

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128327C>T (hg19) ; chr17:g.7225008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225008C>T , CM000679.2:g.7225008C>T	GRCh38
NC_000017.10:g.7128327C>T , CM000679.1:g.7128327C>T	GRCh37
NC_000017.9:g.7069051C>T	NCBI36
NG_007975.1:g.10175C>T
NG_008391.2:g.43G>A
NG_033038.1:g.14537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1879C>T MANE Select	ENSP00000349297.5:p.Gln627Ter
ENST00000322910.9:c.*1834C>T	ENSP00000325395.5:n.*1834C>T
ENST00000350303.9:c.1813C>T	ENSP00000344152.5:p.Gln605Ter
ENST00000356839.9:c.1879C>T	ENSP00000349297.5:p.Gln627Ter
ENST00000542255.6:c.758C>T
ENST00000543245.6:c.1948C>T	ENSP00000438689.2:p.Gln650Ter
ENST00000578033.1:n.304C>T
ENST00000578319.5:n.460C>T
ENST00000578711.1:n.1504C>T
ENST00000578809.5:n.451C>T
ENST00000579425.5:n.995C>T
ENST00000583848.5:c.245C>T	ENSP00000466487.1:n.245C>T
ENST00000583850.5:n.650C>T
ENST00000583858.5:c.810C>T
NM_000018.3:c.1879C>T	NP_000009.1:p.Gln627Ter
NM_001033859.2:c.1813C>T	NP_001029031.1:p.Gln605Ter
NM_001270447.1:c.1948C>T	NP_001257376.1:p.Gln650Ter
NM_001270448.1:c.1651C>T	NP_001257377.1:p.Gln551Ter
XM_006721516.2:c.1900C>T	XP_006721579.2:p.Gln634Ter
XM_011523829.1:c.1798C>T	XP_011522131.1:p.Gln600Ter
XM_011523830.1:c.1777C>T	XP_011522132.1:p.Gln593Ter
XR_934021.1:n.1982C>T
XR_934022.1:n.1888C>T
XR_934023.1:n.1909C>T
XM_006721516.3:c.1900C>T	XP_006721579.2:p.Gln634Ter
XM_011523829.2:c.1798C>T	XP_011522131.1:p.Gln600Ter
XM_011523830.2:c.1777C>T	XP_011522132.1:p.Gln593Ter
XM_024450741.1:c.1867C>T	XP_024306509.1:p.Gln623Ter
XR_934021.2:n.1934C>T
XR_934022.2:n.1840C>T
XR_934023.2:n.1861C>T
NM_000018.4:c.1879C>T MANE Select	NP_000009.1:p.Gln627Ter
NM_001033859.3:c.1813C>T	NP_001029031.1:p.Gln605Ter
NM_001270447.2:c.1948C>T	NP_001257376.1:p.Gln650Ter
NM_001270448.2:c.1651C>T	NP_001257377.1:p.Gln551Ter