Canonical Allele Identifier: CA397722323

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123923G>C (hg19) ; chr17:g.7220604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220604G>C , CM000679.2:g.7220604G>C	GRCh38
NC_000017.10:g.7123923G>C , CM000679.1:g.7123923G>C	GRCh37
NC_000017.9:g.7064647G>C	NCBI36
NG_007975.1:g.5771G>C
NG_008391.2:g.4447C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.205G>C MANE Select	ENSP00000349297.5:p.Glu69Gln
ENST00000322910.9:c.*160G>C	ENSP00000325395.5:n.*160G>C
ENST00000350303.9:c.139G>C	ENSP00000344152.5:p.Glu47Gln
ENST00000356839.9:c.205G>C	ENSP00000349297.5:p.Glu69Gln
ENST00000543245.6:c.274G>C	ENSP00000438689.2:p.Glu92Gln
ENST00000577191.5:n.282G>C
ENST00000577433.5:n.413G>C
ENST00000577857.5:n.229-162G>C
ENST00000578269.5:n.652G>C
ENST00000578421.1:n.413G>C
ENST00000579286.5:n.386G>C
ENST00000579886.2:c.201+78G>C	ENSP00000463246.1:n.201+78G>C
ENST00000580263.5:n.369G>C
ENST00000581562.5:n.252G>C
ENST00000582056.5:n.295G>C
ENST00000582166.1:n.93G>C
ENST00000582356.5:n.404G>C
ENST00000583312.5:c.205G>C	ENSP00000467920.1:p.Glu69Gln
ENST00000584103.5:c.205G>C	ENSP00000465353.1:p.Glu69Gln
NM_000018.3:c.205G>C	NP_000009.1:p.Glu69Gln
NM_001033859.2:c.139G>C	NP_001029031.1:p.Glu47Gln
NM_001270447.1:c.274G>C	NP_001257376.1:p.Glu92Gln
NM_001270448.1:c.-24G>C	NP_001257377.1:n.-24G>C
XM_006721516.2:c.205G>C	XP_006721579.2:p.Glu69Gln
XM_011523829.1:c.205G>C	XP_011522131.1:p.Glu69Gln
XM_011523830.1:c.205G>C	XP_011522132.1:p.Glu69Gln
XR_934021.1:n.312G>C
XR_934022.1:n.312G>C
XR_934023.1:n.312G>C
XM_006721516.3:c.205G>C	XP_006721579.2:p.Glu69Gln
XM_011523829.2:c.205G>C	XP_011522131.1:p.Glu69Gln
XM_011523830.2:c.205G>C	XP_011522132.1:p.Glu69Gln
XM_024450741.1:c.205G>C	XP_024306509.1:p.Glu69Gln
XR_934021.2:n.264G>C
XR_934022.2:n.264G>C
XR_934023.2:n.264G>C
NM_000018.4:c.205G>C MANE Select	NP_000009.1:p.Glu69Gln
NM_001033859.3:c.139G>C	NP_001029031.1:p.Glu47Gln
NM_001270447.2:c.274G>C	NP_001257376.1:p.Glu92Gln
NM_001270448.2:c.-24G>C	NP_001257377.1:n.-24G>C