Canonical Allele Identifier: CA397726079

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128324T>G (hg19) ; chr17:g.7225005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225005T>G , CM000679.2:g.7225005T>G	GRCh38
NC_000017.10:g.7128324T>G , CM000679.1:g.7128324T>G	GRCh37
NC_000017.9:g.7069048T>G	NCBI36
NG_007975.1:g.10172T>G
NG_008391.2:g.46A>C
NG_033038.1:g.14540A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1876T>G MANE Select	ENSP00000349297.5:p.Trp626Gly
ENST00000322910.9:c.*1831T>G	ENSP00000325395.5:n.*1831T>G
ENST00000350303.9:c.1810T>G	ENSP00000344152.5:p.Trp604Gly
ENST00000356839.9:c.1876T>G	ENSP00000349297.5:p.Trp626Gly
ENST00000542255.6:c.755T>G
ENST00000543245.6:c.1945T>G	ENSP00000438689.2:p.Trp649Gly
ENST00000578033.1:n.301T>G
ENST00000578319.5:n.457T>G
ENST00000578711.1:n.1501T>G
ENST00000578809.5:n.448T>G
ENST00000579425.5:n.992T>G
ENST00000583848.5:c.242T>G	ENSP00000466487.1:n.242T>G
ENST00000583850.5:n.647T>G
ENST00000583858.5:c.807T>G
NM_000018.3:c.1876T>G	NP_000009.1:p.Trp626Gly
NM_001033859.2:c.1810T>G	NP_001029031.1:p.Trp604Gly
NM_001270447.1:c.1945T>G	NP_001257376.1:p.Trp649Gly
NM_001270448.1:c.1648T>G	NP_001257377.1:p.Trp550Gly
XM_006721516.2:c.1897T>G	XP_006721579.2:p.Trp633Gly
XM_011523829.1:c.1795T>G	XP_011522131.1:p.Trp599Gly
XM_011523830.1:c.1774T>G	XP_011522132.1:p.Trp592Gly
XR_934021.1:n.1979T>G
XR_934022.1:n.1885T>G
XR_934023.1:n.1906T>G
XM_006721516.3:c.1897T>G	XP_006721579.2:p.Trp633Gly
XM_011523829.2:c.1795T>G	XP_011522131.1:p.Trp599Gly
XM_011523830.2:c.1774T>G	XP_011522132.1:p.Trp592Gly
XM_024450741.1:c.1864T>G	XP_024306509.1:p.Trp622Gly
XR_934021.2:n.1931T>G
XR_934022.2:n.1837T>G
XR_934023.2:n.1858T>G
NM_000018.4:c.1876T>G MANE Select	NP_000009.1:p.Trp626Gly
NM_001033859.3:c.1810T>G	NP_001029031.1:p.Trp604Gly
NM_001270447.2:c.1945T>G	NP_001257376.1:p.Trp649Gly
NM_001270448.2:c.1648T>G	NP_001257377.1:p.Trp550Gly