Canonical Allele Identifier: CA497694166

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127149G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223830G>C , CM000679.2:g.7223830G>C	GRCh38
NC_000017.10:g.7127149G>C , CM000679.1:g.7127149G>C	GRCh37
NC_000017.9:g.7067873G>C	NCBI36
NG_007975.1:g.8997G>C
NG_008391.2:g.1221C>G
NG_033038.1:g.15715C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1287G>C MANE Select	ENSP00000349297.5:p.Val429=
ENST00000322910.9:c.*1242G>C	ENSP00000325395.5:n.*1242G>C
ENST00000350303.9:c.1221G>C	ENSP00000344152.5:p.Val407=
ENST00000356839.9:c.1287G>C	ENSP00000349297.5:p.Val429=
ENST00000542255.6:c.145G>C
ENST00000543245.6:c.1356G>C	ENSP00000438689.2:p.Val452=
ENST00000578579.2:n.458G>C
ENST00000578711.1:n.326G>C
ENST00000578824.5:n.703G>C
ENST00000579425.5:n.311G>C
ENST00000579546.1:c.124G>C
ENST00000583074.5:n.6G>C
ENST00000583850.5:n.62G>C
ENST00000583858.5:c.316G>C
ENST00000585203.6:n.495G>C
NM_000018.3:c.1287G>C	NP_000009.1:p.Val429=
NM_001033859.2:c.1221G>C	NP_001029031.1:p.Val407=
NM_001270447.1:c.1356G>C	NP_001257376.1:p.Val452=
NM_001270448.1:c.1059G>C	NP_001257377.1:p.Val353=
XM_006721516.2:c.1287G>C	XP_006721579.2:p.Val429=
XM_011523829.1:c.1287G>C	XP_011522131.1:p.Val429=
XM_011523830.1:c.1287G>C	XP_011522132.1:p.Val429=
XR_934021.1:n.1394G>C
XR_934022.1:n.1394G>C
XR_934023.1:n.1394G>C
XM_006721516.3:c.1287G>C	XP_006721579.2:p.Val429=
XM_011523829.2:c.1287G>C	XP_011522131.1:p.Val429=
XM_011523830.2:c.1287G>C	XP_011522132.1:p.Val429=
XM_024450741.1:c.1287G>C	XP_024306509.1:p.Val429=
XR_934021.2:n.1346G>C
XR_934022.2:n.1346G>C
XR_934023.2:n.1346G>C
NM_000018.4:c.1287G>C MANE Select	NP_000009.1:p.Val429=
NM_001033859.3:c.1221G>C	NP_001029031.1:p.Val407=
NM_001270447.2:c.1356G>C	NP_001257376.1:p.Val452=
NM_001270448.2:c.1059G>C	NP_001257377.1:p.Val353=