Canonical Allele Identifier: CA397724473

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126531T>G (hg19) ; chr17:g.7223212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223212T>G , CM000679.2:g.7223212T>G	GRCh38
NC_000017.10:g.7126531T>G , CM000679.1:g.7126531T>G	GRCh37
NC_000017.9:g.7067255T>G	NCBI36
NG_007975.1:g.8379T>G
NG_008391.2:g.1839A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1157T>G MANE Select	ENSP00000349297.5:p.Met386Arg
ENST00000322910.9:c.*1112T>G	ENSP00000325395.5:n.*1112T>G
ENST00000350303.9:c.1091T>G	ENSP00000344152.5:p.Met364Arg
ENST00000356839.9:c.1157T>G	ENSP00000349297.5:p.Met386Arg
ENST00000542255.6:c.15T>G
ENST00000543245.6:c.1226T>G	ENSP00000438689.2:p.Met409Arg
ENST00000578579.2:n.106T>G
ENST00000578824.5:n.573T>G
ENST00000579425.5:n.181T>G
ENST00000582379.1:n.808T>G
ENST00000583858.5:c.186T>G
ENST00000585203.6:n.365T>G
NM_000018.3:c.1157T>G	NP_000009.1:p.Met386Arg
NM_001033859.2:c.1091T>G	NP_001029031.1:p.Met364Arg
NM_001270447.1:c.1226T>G	NP_001257376.1:p.Met409Arg
NM_001270448.1:c.929T>G	NP_001257377.1:p.Met310Arg
XM_006721516.2:c.1157T>G	XP_006721579.2:p.Met386Arg
XM_011523829.1:c.1157T>G	XP_011522131.1:p.Met386Arg
XM_011523830.1:c.1157T>G	XP_011522132.1:p.Met386Arg
XR_934021.1:n.1264T>G
XR_934022.1:n.1264T>G
XR_934023.1:n.1264T>G
XM_006721516.3:c.1157T>G	XP_006721579.2:p.Met386Arg
XM_011523829.2:c.1157T>G	XP_011522131.1:p.Met386Arg
XM_011523830.2:c.1157T>G	XP_011522132.1:p.Met386Arg
XM_024450741.1:c.1157T>G	XP_024306509.1:p.Met386Arg
XR_934021.2:n.1216T>G
XR_934022.2:n.1216T>G
XR_934023.2:n.1216T>G
NM_000018.4:c.1157T>G MANE Select	NP_000009.1:p.Met386Arg
NM_001033859.3:c.1091T>G	NP_001029031.1:p.Met364Arg
NM_001270447.2:c.1226T>G	NP_001257376.1:p.Met409Arg
NM_001270448.2:c.929T>G	NP_001257377.1:p.Met310Arg