Canonical Allele Identifier: CA397724881

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127191G>C (hg19) ; chr17:g.7223872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223872G>C , CM000679.2:g.7223872G>C	GRCh38
NC_000017.10:g.7127191G>C , CM000679.1:g.7127191G>C	GRCh37
NC_000017.9:g.7067915G>C	NCBI36
NG_007975.1:g.9039G>C
NG_008391.2:g.1179C>G
NG_033038.1:g.15673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1329G>C MANE Select	ENSP00000349297.5:p.Met443Ile
ENST00000322910.9:c.*1284G>C	ENSP00000325395.5:n.*1284G>C
ENST00000350303.9:c.1263G>C	ENSP00000344152.5:p.Met421Ile
ENST00000356839.9:c.1329G>C	ENSP00000349297.5:p.Met443Ile
ENST00000542255.6:c.187G>C
ENST00000543245.6:c.1398G>C	ENSP00000438689.2:p.Met466Ile
ENST00000578711.1:n.368G>C
ENST00000579425.5:n.353G>C
ENST00000579546.1:c.166G>C
ENST00000583074.5:n.48G>C
ENST00000583850.5:n.104G>C
ENST00000583858.5:c.358G>C
ENST00000585203.6:n.523+14G>C
NM_000018.3:c.1329G>C	NP_000009.1:p.Met443Ile
NM_001033859.2:c.1263G>C	NP_001029031.1:p.Met421Ile
NM_001270447.1:c.1398G>C	NP_001257376.1:p.Met466Ile
NM_001270448.1:c.1101G>C	NP_001257377.1:p.Met367Ile
XM_006721516.2:c.1329G>C	XP_006721579.2:p.Met443Ile
XM_011523829.1:c.1329G>C	XP_011522131.1:p.Met443Ile
XM_011523830.1:c.1329G>C	XP_011522132.1:p.Met443Ile
XR_934021.1:n.1436G>C
XR_934022.1:n.1436G>C
XR_934023.1:n.1436G>C
XM_006721516.3:c.1329G>C	XP_006721579.2:p.Met443Ile
XM_011523829.2:c.1329G>C	XP_011522131.1:p.Met443Ile
XM_011523830.2:c.1329G>C	XP_011522132.1:p.Met443Ile
XM_024450741.1:c.1329G>C	XP_024306509.1:p.Met443Ile
XR_934021.2:n.1388G>C
XR_934022.2:n.1388G>C
XR_934023.2:n.1388G>C
NM_000018.4:c.1329G>C MANE Select	NP_000009.1:p.Met443Ile
NM_001033859.3:c.1263G>C	NP_001029031.1:p.Met421Ile
NM_001270447.2:c.1398G>C	NP_001257376.1:p.Met466Ile
NM_001270448.2:c.1101G>C	NP_001257377.1:p.Met367Ile