Canonical Allele Identifier: CA397726149

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1906A>C MANE Select	ENSP00000349297.5:p.Ser636Arg
ENST00000322910.9:c.*1861A>C	ENSP00000325395.5:n.*1861A>C
ENST00000350303.9:c.1840A>C	ENSP00000344152.5:p.Ser614Arg
ENST00000356839.9:c.1906A>C	ENSP00000349297.5:p.Ser636Arg
ENST00000542255.6:c.785A>C
ENST00000543245.6:c.1975A>C	ENSP00000438689.2:p.Ser659Arg
ENST00000578033.1:n.331A>C
ENST00000578319.5:n.487A>C
ENST00000578711.1:n.1531A>C
ENST00000578809.5:n.478A>C
ENST00000579425.5:n.1022A>C
ENST00000583848.5:c.272A>C	ENSP00000466487.1:n.272A>C
ENST00000583850.5:n.677A>C
ENST00000583858.5:c.837A>C
NM_000018.3:c.1906A>C	NP_000009.1:p.Ser636Arg
NM_001033859.2:c.1840A>C	NP_001029031.1:p.Ser614Arg
NM_001270447.1:c.1975A>C	NP_001257376.1:p.Ser659Arg
NM_001270448.1:c.1678A>C	NP_001257377.1:p.Ser560Arg
XM_006721516.2:c.1927A>C	XP_006721579.2:p.Ser643Arg
XM_011523829.1:c.1825A>C	XP_011522131.1:p.Ser609Arg
XM_011523830.1:c.1804A>C	XP_011522132.1:p.Ser602Arg
XR_934021.1:n.2009A>C
XR_934022.1:n.1915A>C
XR_934023.1:n.1936A>C
XM_006721516.3:c.1927A>C	XP_006721579.2:p.Ser643Arg
XM_011523829.2:c.1825A>C	XP_011522131.1:p.Ser609Arg
XM_011523830.2:c.1804A>C	XP_011522132.1:p.Ser602Arg
XM_024450741.1:c.1894A>C	XP_024306509.1:p.Ser632Arg
XR_934021.2:n.1961A>C
XR_934022.2:n.1867A>C
XR_934023.2:n.1888A>C
NM_000018.4:c.1906A>C MANE Select	NP_000009.1:p.Ser636Arg
NM_001033859.3:c.1840A>C	NP_001029031.1:p.Ser614Arg
NM_001270447.2:c.1975A>C	NP_001257376.1:p.Ser659Arg
NM_001270448.2:c.1678A>C	NP_001257377.1:p.Ser560Arg