Canonical Allele Identifier: CA8338274

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 474892
• ClinVar RCV Id: RCV000534253
• dbSNP Id: rs200117742
• ExAC: 17:7128196 G / C
• gnomAD v2: 17-7128196-G-C
• gnomAD v3: 17-7224877-G-C
• gnomAD v4: 17-7224877-G-C
• MyVariant Identifiers: chr17:g.7128196G>C (hg19) ; chr17:g.7224877G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224877G>C , CM000679.2:g.7224877G>C	GRCh38
NC_000017.10:g.7128196G>C , CM000679.1:g.7128196G>C	GRCh37
NC_000017.9:g.7068920G>C	NCBI36
NG_007975.1:g.10044G>C
NG_008391.2:g.174C>G
NG_033038.1:g.14668C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1820G>C MANE Select	ENSP00000349297.5:p.Cys607Ser
ENST00000322910.9:c.*1775G>C	ENSP00000325395.5:n.*1775G>C
ENST00000350303.9:c.1754G>C	ENSP00000344152.5:p.Cys585Ser
ENST00000356839.9:c.1820G>C	ENSP00000349297.5:p.Cys607Ser
ENST00000542255.6:c.699G>C
ENST00000543245.6:c.1889G>C	ENSP00000438689.2:p.Cys630Ser
ENST00000578033.1:n.245G>C
ENST00000578319.5:n.401G>C
ENST00000578711.1:n.1373G>C
ENST00000578809.5:n.392G>C
ENST00000579425.5:n.936G>C
ENST00000579546.1:c.555G>C
ENST00000583848.5:c.186G>C	ENSP00000466487.1:n.186G>C
ENST00000583850.5:n.591G>C
ENST00000583858.5:c.751G>C
NM_000018.3:c.1820G>C	NP_000009.1:p.Cys607Ser
NM_001033859.2:c.1754G>C	NP_001029031.1:p.Cys585Ser
NM_001270447.1:c.1889G>C	NP_001257376.1:p.Cys630Ser
NM_001270448.1:c.1592G>C	NP_001257377.1:p.Cys531Ser
XM_006721516.2:c.1841G>C	XP_006721579.2:p.Cys614Ser
XM_011523829.1:c.1739G>C	XP_011522131.1:p.Cys580Ser
XM_011523830.1:c.1718G>C	XP_011522132.1:p.Cys573Ser
XR_934021.1:n.1923G>C
XR_934022.1:n.1829G>C
XR_934023.1:n.1850G>C
XM_006721516.3:c.1841G>C	XP_006721579.2:p.Cys614Ser
XM_011523829.2:c.1739G>C	XP_011522131.1:p.Cys580Ser
XM_011523830.2:c.1718G>C	XP_011522132.1:p.Cys573Ser
XM_024450741.1:c.1808G>C	XP_024306509.1:p.Cys603Ser
XR_934021.2:n.1875G>C
XR_934022.2:n.1781G>C
XR_934023.2:n.1802G>C
NM_000018.4:c.1820G>C MANE Select	NP_000009.1:p.Cys607Ser
NM_001033859.3:c.1754G>C	NP_001029031.1:p.Cys585Ser
NM_001270447.2:c.1889G>C	NP_001257376.1:p.Cys630Ser
NM_001270448.2:c.1592G>C	NP_001257377.1:p.Cys531Ser