Canonical Allele Identifier: CA397723408

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125306T>G (hg19) ; chr17:g.7221987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221987T>G , CM000679.2:g.7221987T>G	GRCh38
NC_000017.10:g.7125306T>G , CM000679.1:g.7125306T>G	GRCh37
NC_000017.9:g.7066030T>G	NCBI36
NG_007975.1:g.7154T>G
NG_008391.2:g.3064A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.658T>G MANE Select	ENSP00000349297.5:p.Ser220Ala
ENST00000322910.9:c.*613T>G	ENSP00000325395.5:n.*613T>G
ENST00000350303.9:c.592T>G	ENSP00000344152.5:p.Ser198Ala
ENST00000356839.9:c.658T>G	ENSP00000349297.5:p.Ser220Ala
ENST00000543245.6:c.727T>G	ENSP00000438689.2:p.Ser243Ala
ENST00000577191.5:n.735T>G
ENST00000577857.5:n.474T>G
ENST00000579286.5:n.839T>G
ENST00000580365.1:n.389T>G
ENST00000581378.5:c.376T>G
ENST00000581562.5:n.560T>G
ENST00000582379.1:n.42T>G
ENST00000583312.5:c.673T>G
ENST00000583760.1:n.440T>G
NM_000018.3:c.658T>G	NP_000009.1:p.Ser220Ala
NM_001033859.2:c.592T>G	NP_001029031.1:p.Ser198Ala
NM_001270447.1:c.727T>G	NP_001257376.1:p.Ser243Ala
NM_001270448.1:c.430T>G	NP_001257377.1:p.Ser144Ala
XM_006721516.2:c.658T>G	XP_006721579.2:p.Ser220Ala
XM_011523829.1:c.658T>G	XP_011522131.1:p.Ser220Ala
XM_011523830.1:c.658T>G	XP_011522132.1:p.Ser220Ala
XR_934021.1:n.765T>G
XR_934022.1:n.765T>G
XR_934023.1:n.765T>G
XM_006721516.3:c.658T>G	XP_006721579.2:p.Ser220Ala
XM_011523829.2:c.658T>G	XP_011522131.1:p.Ser220Ala
XM_011523830.2:c.658T>G	XP_011522132.1:p.Ser220Ala
XM_024450741.1:c.658T>G	XP_024306509.1:p.Ser220Ala
XR_934021.2:n.717T>G
XR_934022.2:n.717T>G
XR_934023.2:n.717T>G
NM_000018.4:c.658T>G MANE Select	NP_000009.1:p.Ser220Ala
NM_001033859.3:c.592T>G	NP_001029031.1:p.Ser198Ala
NM_001270447.2:c.727T>G	NP_001257376.1:p.Ser243Ala
NM_001270448.2:c.430T>G	NP_001257377.1:p.Ser144Ala