Canonical Allele Identifier: CA397724146

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126112C>G (hg19) ; chr17:g.7222793C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222793C>G , CM000679.2:g.7222793C>G	GRCh38
NC_000017.10:g.7126112C>G , CM000679.1:g.7126112C>G	GRCh37
NC_000017.9:g.7066836C>G	NCBI36
NG_007975.1:g.7960C>G
NG_008391.2:g.2258G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1005C>G MANE Select	ENSP00000349297.5:p.His335Gln
ENST00000322910.9:c.*960C>G	ENSP00000325395.5:n.*960C>G
ENST00000350303.9:c.939C>G	ENSP00000344152.5:p.His313Gln
ENST00000356839.9:c.1005C>G	ENSP00000349297.5:p.His335Gln
ENST00000543245.6:c.1074C>G	ENSP00000438689.2:p.His358Gln
ENST00000578824.5:n.154C>G
ENST00000581378.5:c.723C>G
ENST00000582379.1:n.389C>G
ENST00000583858.5:c.34C>G
NM_000018.3:c.1005C>G	NP_000009.1:p.His335Gln
NM_001033859.2:c.939C>G	NP_001029031.1:p.His313Gln
NM_001270447.1:c.1074C>G	NP_001257376.1:p.His358Gln
NM_001270448.1:c.777C>G	NP_001257377.1:p.His259Gln
XM_006721516.2:c.1005C>G	XP_006721579.2:p.His335Gln
XM_011523829.1:c.1005C>G	XP_011522131.1:p.His335Gln
XM_011523830.1:c.1005C>G	XP_011522132.1:p.His335Gln
XR_934021.1:n.1112C>G
XR_934022.1:n.1112C>G
XR_934023.1:n.1112C>G
XM_006721516.3:c.1005C>G	XP_006721579.2:p.His335Gln
XM_011523829.2:c.1005C>G	XP_011522131.1:p.His335Gln
XM_011523830.2:c.1005C>G	XP_011522132.1:p.His335Gln
XM_024450741.1:c.1005C>G	XP_024306509.1:p.His335Gln
XR_934021.2:n.1064C>G
XR_934022.2:n.1064C>G
XR_934023.2:n.1064C>G
NM_000018.4:c.1005C>G MANE Select	NP_000009.1:p.His335Gln
NM_001033859.3:c.939C>G	NP_001029031.1:p.His313Gln
NM_001270447.2:c.1074C>G	NP_001257376.1:p.His358Gln
NM_001270448.2:c.777C>G	NP_001257377.1:p.His259Gln