Canonical Allele Identifier: CA397722726

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220936-C-G
• MyVariant Identifiers: chr17:g.7124255C>G (hg19) ; chr17:g.7220936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220936C>G , CM000679.2:g.7220936C>G	GRCh38
NC_000017.10:g.7124255C>G , CM000679.1:g.7124255C>G	GRCh37
NC_000017.9:g.7064979C>G	NCBI36
NG_007975.1:g.6103C>G
NG_008391.2:g.4115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.355C>G MANE Select	ENSP00000349297.5:p.Pro119Ala
ENST00000322910.9:c.*310C>G	ENSP00000325395.5:n.*310C>G
ENST00000350303.9:c.289C>G	ENSP00000344152.5:p.Pro97Ala
ENST00000356839.9:c.355C>G	ENSP00000349297.5:p.Pro119Ala
ENST00000543245.6:c.424C>G	ENSP00000438689.2:p.Pro142Ala
ENST00000577191.5:n.432C>G
ENST00000577433.5:n.563C>G
ENST00000577857.5:n.293+106C>G
ENST00000579286.5:n.536C>G
ENST00000579886.2:c.202-9C>G	ENSP00000463246.1:n.202-9C>G
ENST00000580365.1:n.86C>G
ENST00000581378.5:c.54C>G
ENST00000581562.5:n.402C>G
ENST00000582056.5:n.538C>G
ENST00000582166.1:n.336C>G
ENST00000583312.5:c.355C>G	ENSP00000467920.1:p.Pro119Ala
ENST00000584103.5:c.388C>G	ENSP00000465353.1:p.Pro130Ala
NM_000018.3:c.355C>G	NP_000009.1:p.Pro119Ala
NM_001033859.2:c.289C>G	NP_001029031.1:p.Pro97Ala
NM_001270447.1:c.424C>G	NP_001257376.1:p.Pro142Ala
NM_001270448.1:c.127C>G	NP_001257377.1:p.Pro43Ala
XM_006721516.2:c.355C>G	XP_006721579.2:p.Pro119Ala
XM_011523829.1:c.355C>G	XP_011522131.1:p.Pro119Ala
XM_011523830.1:c.355C>G	XP_011522132.1:p.Pro119Ala
XR_934021.1:n.462C>G
XR_934022.1:n.462C>G
XR_934023.1:n.462C>G
XM_006721516.3:c.355C>G	XP_006721579.2:p.Pro119Ala
XM_011523829.2:c.355C>G	XP_011522131.1:p.Pro119Ala
XM_011523830.2:c.355C>G	XP_011522132.1:p.Pro119Ala
XM_024450741.1:c.355C>G	XP_024306509.1:p.Pro119Ala
XR_934021.2:n.414C>G
XR_934022.2:n.414C>G
XR_934023.2:n.414C>G
NM_000018.4:c.355C>G MANE Select	NP_000009.1:p.Pro119Ala
NM_001033859.3:c.289C>G	NP_001029031.1:p.Pro97Ala
NM_001270447.2:c.424C>G	NP_001257376.1:p.Pro142Ala
NM_001270448.2:c.127C>G	NP_001257377.1:p.Pro43Ala