Canonical Allele Identifier: CA397724974

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127325C>G (hg19) ; chr17:g.7224006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224006C>G , CM000679.2:g.7224006C>G	GRCh38
NC_000017.10:g.7127325C>G , CM000679.1:g.7127325C>G	GRCh37
NC_000017.9:g.7068049C>G	NCBI36
NG_007975.1:g.9173C>G
NG_008391.2:g.1045G>C
NG_033038.1:g.15539G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1371C>G MANE Select	ENSP00000349297.5:p.Ile457Met
ENST00000322910.9:c.*1326C>G	ENSP00000325395.5:n.*1326C>G
ENST00000350303.9:c.1305C>G	ENSP00000344152.5:p.Ile435Met
ENST00000356839.9:c.1371C>G	ENSP00000349297.5:p.Ile457Met
ENST00000542255.6:c.229C>G
ENST00000543245.6:c.1440C>G	ENSP00000438689.2:p.Ile480Met
ENST00000578711.1:n.502C>G
ENST00000579425.5:n.487C>G
ENST00000579546.1:c.208C>G
ENST00000579894.5:n.82C>G
ENST00000583074.5:n.90C>G
ENST00000583850.5:n.146C>G
ENST00000583858.5:c.400C>G
ENST00000585203.6:n.562C>G
NM_000018.3:c.1371C>G	NP_000009.1:p.Ile457Met
NM_001033859.2:c.1305C>G	NP_001029031.1:p.Ile435Met
NM_001270447.1:c.1440C>G	NP_001257376.1:p.Ile480Met
NM_001270448.1:c.1143C>G	NP_001257377.1:p.Ile381Met
XM_006721516.2:c.1371C>G	XP_006721579.2:p.Ile457Met
XM_011523829.1:c.1371C>G	XP_011522131.1:p.Ile457Met
XM_011523830.1:c.1371C>G	XP_011522132.1:p.Ile457Met
XR_934021.1:n.1478C>G
XR_934022.1:n.1478C>G
XR_934023.1:n.1478C>G
XM_006721516.3:c.1371C>G	XP_006721579.2:p.Ile457Met
XM_011523829.2:c.1371C>G	XP_011522131.1:p.Ile457Met
XM_011523830.2:c.1371C>G	XP_011522132.1:p.Ile457Met
XM_024450741.1:c.1371C>G	XP_024306509.1:p.Ile457Met
XR_934021.2:n.1430C>G
XR_934022.2:n.1430C>G
XR_934023.2:n.1430C>G
NM_000018.4:c.1371C>G MANE Select	NP_000009.1:p.Ile457Met
NM_001033859.3:c.1305C>G	NP_001029031.1:p.Ile435Met
NM_001270447.2:c.1440C>G	NP_001257376.1:p.Ile480Met
NM_001270448.2:c.1143C>G	NP_001257377.1:p.Ile381Met