Canonical Allele Identifier: CA397722521

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124100A>C (hg19) ; chr17:g.7220781A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220781A>C , CM000679.2:g.7220781A>C	GRCh38
NC_000017.10:g.7124100A>C , CM000679.1:g.7124100A>C	GRCh37
NC_000017.9:g.7064824A>C	NCBI36
NG_007975.1:g.5948A>C
NG_008391.2:g.4270T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.293A>C MANE Select	ENSP00000349297.5:p.Gln98Pro
ENST00000322910.9:c.*248A>C	ENSP00000325395.5:n.*248A>C
ENST00000350303.9:c.227A>C	ENSP00000344152.5:p.Gln76Pro
ENST00000356839.9:c.293A>C	ENSP00000349297.5:p.Gln98Pro
ENST00000543245.6:c.362A>C	ENSP00000438689.2:p.Gln121Pro
ENST00000577191.5:n.370A>C
ENST00000577433.5:n.501A>C
ENST00000577857.5:n.244A>C
ENST00000579286.5:n.474A>C
ENST00000579886.2:c.202-164A>C	ENSP00000463246.1:n.202-164A>C
ENST00000580365.1:n.24A>C
ENST00000581562.5:n.340A>C
ENST00000582056.5:n.383A>C
ENST00000582166.1:n.181A>C
ENST00000582356.5:n.492A>C
ENST00000583312.5:c.293A>C	ENSP00000467920.1:p.Gln98Pro
ENST00000584103.5:c.293A>C	ENSP00000465353.1:p.Gln98Pro
NM_000018.3:c.293A>C	NP_000009.1:p.Gln98Pro
NM_001033859.2:c.227A>C	NP_001029031.1:p.Gln76Pro
NM_001270447.1:c.362A>C	NP_001257376.1:p.Gln121Pro
NM_001270448.1:c.65A>C	NP_001257377.1:p.Gln22Pro
XM_006721516.2:c.293A>C	XP_006721579.2:p.Gln98Pro
XM_011523829.1:c.293A>C	XP_011522131.1:p.Gln98Pro
XM_011523830.1:c.293A>C	XP_011522132.1:p.Gln98Pro
XR_934021.1:n.400A>C
XR_934022.1:n.400A>C
XR_934023.1:n.400A>C
XM_006721516.3:c.293A>C	XP_006721579.2:p.Gln98Pro
XM_011523829.2:c.293A>C	XP_011522131.1:p.Gln98Pro
XM_011523830.2:c.293A>C	XP_011522132.1:p.Gln98Pro
XM_024450741.1:c.293A>C	XP_024306509.1:p.Gln98Pro
XR_934021.2:n.352A>C
XR_934022.2:n.352A>C
XR_934023.2:n.352A>C
NM_000018.4:c.293A>C MANE Select	NP_000009.1:p.Gln98Pro
NM_001033859.3:c.227A>C	NP_001029031.1:p.Gln76Pro
NM_001270447.2:c.362A>C	NP_001257376.1:p.Gln121Pro
NM_001270448.2:c.65A>C	NP_001257377.1:p.Gln22Pro