Canonical Allele Identifier: CA8338317

Gene: ACADVL

Linked Data

• dbSNP Id: rs760209216
• ExAC: 17:7128420 C / G
• gnomAD v2: 17-7128420-C-G
• gnomAD v4: 17-7225101-C-G
• MyVariant Identifiers: chr17:g.7128420C>G (hg19) ; chr17:g.7225101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225101C>G , CM000679.2:g.7225101C>G	GRCh38
NC_000017.10:g.7128420C>G , CM000679.1:g.7128420C>G	GRCh37
NC_000017.9:g.7069144C>G	NCBI36
NG_007975.1:g.10268C>G
NG_033038.1:g.14444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*4C>G MANE Select	ENSP00000349297.5:n.*4C>G
ENST00000322910.9:c.*1927C>G	ENSP00000325395.5:n.*1927C>G
ENST00000350303.9:c.*4C>G	ENSP00000344152.5:n.*4C>G
ENST00000356839.9:c.*4C>G	ENSP00000349297.5:n.*4C>G
ENST00000542255.6:c.851C>G
ENST00000543245.6:c.*4C>G	ENSP00000438689.2:n.*4C>G
ENST00000578033.1:n.397C>G
ENST00000578319.5:n.553C>G
ENST00000578711.1:n.1597C>G
ENST00000578809.5:n.544C>G
ENST00000579425.5:n.1088C>G
ENST00000583848.5:c.338C>G	ENSP00000466487.1:n.338C>G
ENST00000583850.5:n.743C>G
ENST00000583858.5:c.903C>G
NM_000018.3:c.*4C>G	NP_000009.1:n.*4C>G
NM_001033859.2:c.*4C>G	NP_001029031.1:n.*4C>G
NM_001270447.1:c.*4C>G	NP_001257376.1:n.*4C>G
NM_001270448.1:c.*4C>G	NP_001257377.1:n.*4C>G
XM_006721516.2:c.*4C>G	XP_006721579.2:n.*4C>G
XM_011523829.1:c.*4C>G	XP_011522131.1:n.*4C>G
XM_011523830.1:c.*4C>G	XP_011522132.1:n.*4C>G
XR_934021.1:n.2075C>G
XR_934022.1:n.1981C>G
XR_934023.1:n.2002C>G
XM_006721516.3:c.*4C>G	XP_006721579.2:n.*4C>G
XM_011523829.2:c.*4C>G	XP_011522131.1:n.*4C>G
XM_011523830.2:c.*4C>G	XP_011522132.1:n.*4C>G
XM_024450741.1:c.*4C>G	XP_024306509.1:n.*4C>G
XR_934021.2:n.2027C>G
XR_934022.2:n.1933C>G
XR_934023.2:n.1954C>G
NM_000018.4:c.*4C>G MANE Select	NP_000009.1:n.*4C>G
NM_001033859.3:c.*4C>G	NP_001029031.1:n.*4C>G
NM_001270447.2:c.*4C>G	NP_001257376.1:n.*4C>G
NM_001270448.2:c.*4C>G	NP_001257377.1:n.*4C>G