Canonical Allele Identifier: CA397722333

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220608-C-A
• MyVariant Identifiers: chr17:g.7123927C>A (hg19) ; chr17:g.7220608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220608C>A , CM000679.2:g.7220608C>A	GRCh38
NC_000017.10:g.7123927C>A , CM000679.1:g.7123927C>A	GRCh37
NC_000017.9:g.7064651C>A	NCBI36
NG_007975.1:g.5775C>A
NG_008391.2:g.4443G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.209C>A MANE Select	ENSP00000349297.5:p.Ser70Tyr
ENST00000322910.9:c.*164C>A	ENSP00000325395.5:n.*164C>A
ENST00000350303.9:c.143C>A	ENSP00000344152.5:p.Ser48Tyr
ENST00000356839.9:c.209C>A	ENSP00000349297.5:p.Ser70Tyr
ENST00000543245.6:c.278C>A	ENSP00000438689.2:p.Ser93Tyr
ENST00000577191.5:n.286C>A
ENST00000577433.5:n.417C>A
ENST00000577857.5:n.229-158C>A
ENST00000578269.5:n.656C>A
ENST00000578421.1:n.417C>A
ENST00000579286.5:n.390C>A
ENST00000579886.2:c.201+82C>A	ENSP00000463246.1:n.201+82C>A
ENST00000580263.5:n.373C>A
ENST00000581562.5:n.256C>A
ENST00000582056.5:n.299C>A
ENST00000582166.1:n.97C>A
ENST00000582356.5:n.408C>A
ENST00000583312.5:c.209C>A	ENSP00000467920.1:p.Ser70Tyr
ENST00000584103.5:c.209C>A	ENSP00000465353.1:p.Ser70Tyr
NM_000018.3:c.209C>A	NP_000009.1:p.Ser70Tyr
NM_001033859.2:c.143C>A	NP_001029031.1:p.Ser48Tyr
NM_001270447.1:c.278C>A	NP_001257376.1:p.Ser93Tyr
NM_001270448.1:c.-20C>A	NP_001257377.1:n.-20C>A
XM_006721516.2:c.209C>A	XP_006721579.2:p.Ser70Tyr
XM_011523829.1:c.209C>A	XP_011522131.1:p.Ser70Tyr
XM_011523830.1:c.209C>A	XP_011522132.1:p.Ser70Tyr
XR_934021.1:n.316C>A
XR_934022.1:n.316C>A
XR_934023.1:n.316C>A
XM_006721516.3:c.209C>A	XP_006721579.2:p.Ser70Tyr
XM_011523829.2:c.209C>A	XP_011522131.1:p.Ser70Tyr
XM_011523830.2:c.209C>A	XP_011522132.1:p.Ser70Tyr
XM_024450741.1:c.209C>A	XP_024306509.1:p.Ser70Tyr
XR_934021.2:n.268C>A
XR_934022.2:n.268C>A
XR_934023.2:n.268C>A
NM_000018.4:c.209C>A MANE Select	NP_000009.1:p.Ser70Tyr
NM_001033859.3:c.143C>A	NP_001029031.1:p.Ser48Tyr
NM_001270447.2:c.278C>A	NP_001257376.1:p.Ser93Tyr
NM_001270448.2:c.-20C>A	NP_001257377.1:n.-20C>A