Canonical Allele Identifier: CA397726151

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128354A>T (hg19) ; chr17:g.7225035A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225035A>T , CM000679.2:g.7225035A>T	GRCh38
NC_000017.10:g.7128354A>T , CM000679.1:g.7128354A>T	GRCh37
NC_000017.9:g.7069078A>T	NCBI36
NG_007975.1:g.10202A>T
NG_008391.2:g.16T>A
NG_033038.1:g.14510T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1906A>T MANE Select	ENSP00000349297.5:p.Ser636Cys
ENST00000322910.9:c.*1861A>T	ENSP00000325395.5:n.*1861A>T
ENST00000350303.9:c.1840A>T	ENSP00000344152.5:p.Ser614Cys
ENST00000356839.9:c.1906A>T	ENSP00000349297.5:p.Ser636Cys
ENST00000542255.6:c.785A>T
ENST00000543245.6:c.1975A>T	ENSP00000438689.2:p.Ser659Cys
ENST00000578033.1:n.331A>T
ENST00000578319.5:n.487A>T
ENST00000578711.1:n.1531A>T
ENST00000578809.5:n.478A>T
ENST00000579425.5:n.1022A>T
ENST00000583848.5:c.272A>T	ENSP00000466487.1:n.272A>T
ENST00000583850.5:n.677A>T
ENST00000583858.5:c.837A>T
NM_000018.3:c.1906A>T	NP_000009.1:p.Ser636Cys
NM_001033859.2:c.1840A>T	NP_001029031.1:p.Ser614Cys
NM_001270447.1:c.1975A>T	NP_001257376.1:p.Ser659Cys
NM_001270448.1:c.1678A>T	NP_001257377.1:p.Ser560Cys
XM_006721516.2:c.1927A>T	XP_006721579.2:p.Ser643Cys
XM_011523829.1:c.1825A>T	XP_011522131.1:p.Ser609Cys
XM_011523830.1:c.1804A>T	XP_011522132.1:p.Ser602Cys
XR_934021.1:n.2009A>T
XR_934022.1:n.1915A>T
XR_934023.1:n.1936A>T
XM_006721516.3:c.1927A>T	XP_006721579.2:p.Ser643Cys
XM_011523829.2:c.1825A>T	XP_011522131.1:p.Ser609Cys
XM_011523830.2:c.1804A>T	XP_011522132.1:p.Ser602Cys
XM_024450741.1:c.1894A>T	XP_024306509.1:p.Ser632Cys
XR_934021.2:n.1961A>T
XR_934022.2:n.1867A>T
XR_934023.2:n.1888A>T
NM_000018.4:c.1906A>T MANE Select	NP_000009.1:p.Ser636Cys
NM_001033859.3:c.1840A>T	NP_001029031.1:p.Ser614Cys
NM_001270447.2:c.1975A>T	NP_001257376.1:p.Ser659Cys
NM_001270448.2:c.1678A>T	NP_001257377.1:p.Ser560Cys