Canonical Allele Identifier: CA397722809

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124292C>G (hg19) ; chr17:g.7220973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220973C>G , CM000679.2:g.7220973C>G	GRCh38
NC_000017.10:g.7124292C>G , CM000679.1:g.7124292C>G	GRCh37
NC_000017.9:g.7065016C>G	NCBI36
NG_007975.1:g.6140C>G
NG_008391.2:g.4078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.392C>G MANE Select	ENSP00000349297.5:p.Thr131Ser
ENST00000322910.9:c.*347C>G	ENSP00000325395.5:n.*347C>G
ENST00000350303.9:c.326C>G	ENSP00000344152.5:p.Thr109Ser
ENST00000356839.9:c.392C>G	ENSP00000349297.5:p.Thr131Ser
ENST00000543245.6:c.461C>G	ENSP00000438689.2:p.Thr154Ser
ENST00000577191.5:n.469C>G
ENST00000577433.5:n.600C>G
ENST00000577857.5:n.293+143C>G
ENST00000579286.5:n.573C>G
ENST00000579886.2:c.230C>G	ENSP00000463246.1:p.Thr77Ser
ENST00000580365.1:n.123C>G
ENST00000581378.5:c.91C>G
ENST00000581562.5:n.439C>G
ENST00000582056.5:n.575C>G
ENST00000582166.1:n.373C>G
ENST00000583312.5:c.392C>G	ENSP00000467920.1:p.Thr131Ser
ENST00000584103.5:c.425C>G	ENSP00000465353.1:p.Thr142Ser
NM_000018.3:c.392C>G	NP_000009.1:p.Thr131Ser
NM_001033859.2:c.326C>G	NP_001029031.1:p.Thr109Ser
NM_001270447.1:c.461C>G	NP_001257376.1:p.Thr154Ser
NM_001270448.1:c.164C>G	NP_001257377.1:p.Thr55Ser
XM_006721516.2:c.392C>G	XP_006721579.2:p.Thr131Ser
XM_011523829.1:c.392C>G	XP_011522131.1:p.Thr131Ser
XM_011523830.1:c.392C>G	XP_011522132.1:p.Thr131Ser
XR_934021.1:n.499C>G
XR_934022.1:n.499C>G
XR_934023.1:n.499C>G
XM_006721516.3:c.392C>G	XP_006721579.2:p.Thr131Ser
XM_011523829.2:c.392C>G	XP_011522131.1:p.Thr131Ser
XM_011523830.2:c.392C>G	XP_011522132.1:p.Thr131Ser
XM_024450741.1:c.392C>G	XP_024306509.1:p.Thr131Ser
XR_934021.2:n.451C>G
XR_934022.2:n.451C>G
XR_934023.2:n.451C>G
NM_000018.4:c.392C>G MANE Select	NP_000009.1:p.Thr131Ser
NM_001033859.3:c.326C>G	NP_001029031.1:p.Thr109Ser
NM_001270447.2:c.461C>G	NP_001257376.1:p.Thr154Ser
NM_001270448.2:c.164C>G	NP_001257377.1:p.Thr55Ser