Canonical Allele Identifier: CA397723916

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126000A>C (hg19) ; chr17:g.7222681A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222681A>C , CM000679.2:g.7222681A>C	GRCh38
NC_000017.10:g.7126000A>C , CM000679.1:g.7126000A>C	GRCh37
NC_000017.9:g.7066724A>C	NCBI36
NG_007975.1:g.7848A>C
NG_008391.2:g.2370T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.893A>C MANE Select	ENSP00000349297.5:p.Lys298Thr
ENST00000322910.9:c.*848A>C	ENSP00000325395.5:n.*848A>C
ENST00000350303.9:c.827A>C	ENSP00000344152.5:p.Lys276Thr
ENST00000356839.9:c.893A>C	ENSP00000349297.5:p.Lys298Thr
ENST00000543245.6:c.962A>C	ENSP00000438689.2:p.Lys321Thr
ENST00000578824.5:n.42A>C
ENST00000581378.5:c.611A>C
ENST00000582379.1:n.277A>C
NM_000018.3:c.893A>C	NP_000009.1:p.Lys298Thr
NM_001033859.2:c.827A>C	NP_001029031.1:p.Lys276Thr
NM_001270447.1:c.962A>C	NP_001257376.1:p.Lys321Thr
NM_001270448.1:c.665A>C	NP_001257377.1:p.Lys222Thr
XM_006721516.2:c.893A>C	XP_006721579.2:p.Lys298Thr
XM_011523829.1:c.893A>C	XP_011522131.1:p.Lys298Thr
XM_011523830.1:c.893A>C	XP_011522132.1:p.Lys298Thr
XR_934021.1:n.1000A>C
XR_934022.1:n.1000A>C
XR_934023.1:n.1000A>C
XM_006721516.3:c.893A>C	XP_006721579.2:p.Lys298Thr
XM_011523829.2:c.893A>C	XP_011522131.1:p.Lys298Thr
XM_011523830.2:c.893A>C	XP_011522132.1:p.Lys298Thr
XM_024450741.1:c.893A>C	XP_024306509.1:p.Lys298Thr
XR_934021.2:n.952A>C
XR_934022.2:n.952A>C
XR_934023.2:n.952A>C
NM_000018.4:c.893A>C MANE Select	NP_000009.1:p.Lys298Thr
NM_001033859.3:c.827A>C	NP_001029031.1:p.Lys276Thr
NM_001270447.2:c.962A>C	NP_001257376.1:p.Lys321Thr
NM_001270448.2:c.665A>C	NP_001257377.1:p.Lys222Thr