Canonical Allele Identifier: CA397726234

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071415338
• MyVariant Identifiers: chr17:g.7128396A>G (hg19) ; chr17:g.7225077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225077A>G , CM000679.2:g.7225077A>G	GRCh38
NC_000017.10:g.7128396A>G , CM000679.1:g.7128396A>G	GRCh37
NC_000017.9:g.7069120A>G	NCBI36
NG_007975.1:g.10244A>G
NG_033038.1:g.14468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1948A>G MANE Select	ENSP00000349297.5:p.Ser650Gly
ENST00000322910.9:c.*1903A>G	ENSP00000325395.5:n.*1903A>G
ENST00000350303.9:c.1882A>G	ENSP00000344152.5:p.Ser628Gly
ENST00000356839.9:c.1948A>G	ENSP00000349297.5:p.Ser650Gly
ENST00000542255.6:c.827A>G
ENST00000543245.6:c.2017A>G	ENSP00000438689.2:p.Ser673Gly
ENST00000578033.1:n.373A>G
ENST00000578319.5:n.529A>G
ENST00000578711.1:n.1573A>G
ENST00000578809.5:n.520A>G
ENST00000579425.5:n.1064A>G
ENST00000583848.5:c.314A>G	ENSP00000466487.1:n.314A>G
ENST00000583850.5:n.719A>G
ENST00000583858.5:c.879A>G
NM_000018.3:c.1948A>G	NP_000009.1:p.Ser650Gly
NM_001033859.2:c.1882A>G	NP_001029031.1:p.Ser628Gly
NM_001270447.1:c.2017A>G	NP_001257376.1:p.Ser673Gly
NM_001270448.1:c.1720A>G	NP_001257377.1:p.Ser574Gly
XM_006721516.2:c.1969A>G	XP_006721579.2:p.Ser657Gly
XM_011523829.1:c.1867A>G	XP_011522131.1:p.Ser623Gly
XM_011523830.1:c.1846A>G	XP_011522132.1:p.Ser616Gly
XR_934021.1:n.2051A>G
XR_934022.1:n.1957A>G
XR_934023.1:n.1978A>G
XM_006721516.3:c.1969A>G	XP_006721579.2:p.Ser657Gly
XM_011523829.2:c.1867A>G	XP_011522131.1:p.Ser623Gly
XM_011523830.2:c.1846A>G	XP_011522132.1:p.Ser616Gly
XM_024450741.1:c.1936A>G	XP_024306509.1:p.Ser646Gly
XR_934021.2:n.2003A>G
XR_934022.2:n.1909A>G
XR_934023.2:n.1930A>G
NM_000018.4:c.1948A>G MANE Select	NP_000009.1:p.Ser650Gly
NM_001033859.3:c.1882A>G	NP_001029031.1:p.Ser628Gly
NM_001270447.2:c.2017A>G	NP_001257376.1:p.Ser673Gly
NM_001270448.2:c.1720A>G	NP_001257377.1:p.Ser574Gly