Canonical Allele Identifier: CA8337546

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 324982
• ClinVar RCV Id: RCV002450886
• dbSNP Id: rs536992268
• ExAC: 17:7123487 C / T
• gnomAD v2: 17-7123487-C-T
• gnomAD v3: 17-7220168-C-T
• gnomAD v4: 17-7220168-C-T
• MyVariant Identifiers: chr17:g.7123487C>T (hg19) ; chr17:g.7220168C>T (hg38)
• ERepo: CA8337546/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220168C>T , CM000679.2:g.7220168C>T	GRCh38
NC_000017.10:g.7123487C>T , CM000679.1:g.7123487C>T	GRCh37
NC_000017.9:g.7064211C>T	NCBI36
NG_007975.1:g.5335C>T
NG_008391.2:g.4883G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.109C>T MANE Select	ENSP00000349297.5:p.Arg37Trp
ENST00000322910.9:c.*64C>T	ENSP00000325395.5:n.*64C>T
ENST00000350303.9:c.109C>T	ENSP00000344152.5:p.Arg37Trp
ENST00000356839.9:c.109C>T	ENSP00000349297.5:p.Arg37Trp
ENST00000543245.6:c.178C>T	ENSP00000438689.2:p.Arg60Trp
ENST00000577191.5:n.186C>T
ENST00000577857.5:n.199C>T
ENST00000578269.5:n.216C>T
ENST00000578421.1:n.243C>T
ENST00000579286.5:n.216C>T
ENST00000579886.2:c.109C>T	ENSP00000463246.1:p.Arg37Trp
ENST00000580263.5:n.199C>T
ENST00000581562.5:n.156C>T
ENST00000582056.5:n.199C>T
ENST00000582356.5:n.234C>T
ENST00000583312.5:c.109C>T	ENSP00000467920.1:p.Arg37Trp
ENST00000584103.5:c.109C>T	ENSP00000465353.1:p.Arg37Trp
NM_000018.3:c.109C>T	NP_000009.1:p.Arg37Trp
NM_001033859.2:c.109C>T	NP_001029031.1:p.Arg37Trp
NM_001270447.1:c.178C>T	NP_001257376.1:p.Arg60Trp
NM_001270448.1:c.-120C>T	NP_001257377.1:n.-120C>T
XM_006721516.2:c.109C>T	XP_006721579.2:p.Arg37Trp
XM_011523829.1:c.109C>T	XP_011522131.1:p.Arg37Trp
XM_011523830.1:c.109C>T	XP_011522132.1:p.Arg37Trp
XR_934021.1:n.216C>T
XR_934022.1:n.216C>T
XR_934023.1:n.216C>T
XM_006721516.3:c.109C>T	XP_006721579.2:p.Arg37Trp
XM_011523829.2:c.109C>T	XP_011522131.1:p.Arg37Trp
XM_011523830.2:c.109C>T	XP_011522132.1:p.Arg37Trp
XM_024450741.1:c.109C>T	XP_024306509.1:p.Arg37Trp
XR_934021.2:n.168C>T
XR_934022.2:n.168C>T
XR_934023.2:n.168C>T
NM_000018.4:c.109C>T MANE Select	NP_000009.1:p.Arg37Trp
NM_001033859.3:c.109C>T	NP_001029031.1:p.Arg37Trp
NM_001270447.2:c.178C>T	NP_001257376.1:p.Arg60Trp
NM_001270448.2:c.-120C>T	NP_001257377.1:n.-120C>T