Canonical Allele Identifier: CA397722706

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124246G>C (hg19) ; chr17:g.7220927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220927G>C , CM000679.2:g.7220927G>C	GRCh38
NC_000017.10:g.7124246G>C , CM000679.1:g.7124246G>C	GRCh37
NC_000017.9:g.7064970G>C	NCBI36
NG_007975.1:g.6094G>C
NG_008391.2:g.4124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.346G>C MANE Select	ENSP00000349297.5:p.Val116Leu
ENST00000322910.9:c.*301G>C	ENSP00000325395.5:n.*301G>C
ENST00000350303.9:c.280G>C	ENSP00000344152.5:p.Val94Leu
ENST00000356839.9:c.346G>C	ENSP00000349297.5:p.Val116Leu
ENST00000543245.6:c.415G>C	ENSP00000438689.2:p.Val139Leu
ENST00000577191.5:n.423G>C
ENST00000577433.5:n.554G>C
ENST00000577857.5:n.293+97G>C
ENST00000579286.5:n.527G>C
ENST00000579886.2:c.202-18G>C	ENSP00000463246.1:n.202-18G>C
ENST00000580365.1:n.77G>C
ENST00000581378.5:c.45G>C
ENST00000581562.5:n.393G>C
ENST00000582056.5:n.529G>C
ENST00000582166.1:n.327G>C
ENST00000583312.5:c.346G>C	ENSP00000467920.1:p.Val116Leu
ENST00000584103.5:c.379G>C	ENSP00000465353.1:p.Val127Leu
NM_000018.3:c.346G>C	NP_000009.1:p.Val116Leu
NM_001033859.2:c.280G>C	NP_001029031.1:p.Val94Leu
NM_001270447.1:c.415G>C	NP_001257376.1:p.Val139Leu
NM_001270448.1:c.118G>C	NP_001257377.1:p.Val40Leu
XM_006721516.2:c.346G>C	XP_006721579.2:p.Val116Leu
XM_011523829.1:c.346G>C	XP_011522131.1:p.Val116Leu
XM_011523830.1:c.346G>C	XP_011522132.1:p.Val116Leu
XR_934021.1:n.453G>C
XR_934022.1:n.453G>C
XR_934023.1:n.453G>C
XM_006721516.3:c.346G>C	XP_006721579.2:p.Val116Leu
XM_011523829.2:c.346G>C	XP_011522131.1:p.Val116Leu
XM_011523830.2:c.346G>C	XP_011522132.1:p.Val116Leu
XM_024450741.1:c.346G>C	XP_024306509.1:p.Val116Leu
XR_934021.2:n.405G>C
XR_934022.2:n.405G>C
XR_934023.2:n.405G>C
NM_000018.4:c.346G>C MANE Select	NP_000009.1:p.Val116Leu
NM_001033859.3:c.280G>C	NP_001029031.1:p.Val94Leu
NM_001270447.2:c.415G>C	NP_001257376.1:p.Val139Leu
NM_001270448.2:c.118G>C	NP_001257377.1:p.Val40Leu