Canonical Allele Identifier: CA397722348

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932742
• ClinVar RCV Id: RCV001200680 ; RCV002282479
• dbSNP Id: rs1161495077
• gnomAD v2: 17-7123933-C-T
• gnomAD v4: 17-7220614-C-T
• MyVariant Identifiers: chr17:g.7123933C>T (hg19) ; chr17:g.7220614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220614C>T , CM000679.2:g.7220614C>T	GRCh38
NC_000017.10:g.7123933C>T , CM000679.1:g.7123933C>T	GRCh37
NC_000017.9:g.7064657C>T	NCBI36
NG_007975.1:g.5781C>T
NG_008391.2:g.4437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.215C>T MANE Select	ENSP00000349297.5:p.Ser72Phe
ENST00000322910.9:c.*170C>T	ENSP00000325395.5:n.*170C>T
ENST00000350303.9:c.149C>T	ENSP00000344152.5:p.Ser50Phe
ENST00000356839.9:c.215C>T	ENSP00000349297.5:p.Ser72Phe
ENST00000543245.6:c.284C>T	ENSP00000438689.2:p.Ser95Phe
ENST00000577191.5:n.292C>T
ENST00000577433.5:n.423C>T
ENST00000577857.5:n.229-152C>T
ENST00000578269.5:n.662C>T
ENST00000578421.1:n.423C>T
ENST00000579286.5:n.396C>T
ENST00000579886.2:c.201+88C>T	ENSP00000463246.1:n.201+88C>T
ENST00000580263.5:n.379C>T
ENST00000581562.5:n.262C>T
ENST00000582056.5:n.305C>T
ENST00000582166.1:n.103C>T
ENST00000582356.5:n.414C>T
ENST00000583312.5:c.215C>T	ENSP00000467920.1:p.Ser72Phe
ENST00000584103.5:c.215C>T	ENSP00000465353.1:p.Ser72Phe
NM_000018.3:c.215C>T	NP_000009.1:p.Ser72Phe
NM_001033859.2:c.149C>T	NP_001029031.1:p.Ser50Phe
NM_001270447.1:c.284C>T	NP_001257376.1:p.Ser95Phe
NM_001270448.1:c.-14C>T	NP_001257377.1:n.-14C>T
XM_006721516.2:c.215C>T	XP_006721579.2:p.Ser72Phe
XM_011523829.1:c.215C>T	XP_011522131.1:p.Ser72Phe
XM_011523830.1:c.215C>T	XP_011522132.1:p.Ser72Phe
XR_934021.1:n.322C>T
XR_934022.1:n.322C>T
XR_934023.1:n.322C>T
XM_006721516.3:c.215C>T	XP_006721579.2:p.Ser72Phe
XM_011523829.2:c.215C>T	XP_011522131.1:p.Ser72Phe
XM_011523830.2:c.215C>T	XP_011522132.1:p.Ser72Phe
XM_024450741.1:c.215C>T	XP_024306509.1:p.Ser72Phe
XR_934021.2:n.274C>T
XR_934022.2:n.274C>T
XR_934023.2:n.274C>T
NM_000018.4:c.215C>T MANE Select	NP_000009.1:p.Ser72Phe
NM_001033859.3:c.149C>T	NP_001029031.1:p.Ser50Phe
NM_001270447.2:c.284C>T	NP_001257376.1:p.Ser95Phe
NM_001270448.2:c.-14C>T	NP_001257377.1:n.-14C>T