Canonical Allele Identifier: CA287437650

Gene: ACADVL

Linked Data

• dbSNP Id: rs369160160
• MyVariant Identifiers: chr17:g.7126102T>C (hg19) ; chr17:g.7222783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222783T>C , CM000679.2:g.7222783T>C	GRCh38
NC_000017.10:g.7126102T>C , CM000679.1:g.7126102T>C	GRCh37
NC_000017.9:g.7066826T>C	NCBI36
NG_007975.1:g.7950T>C
NG_008391.2:g.2268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.995T>C MANE Select	ENSP00000349297.5:p.Val332Ala
ENST00000322910.9:c.*950T>C	ENSP00000325395.5:n.*950T>C
ENST00000350303.9:c.929T>C	ENSP00000344152.5:p.Val310Ala
ENST00000356839.9:c.995T>C	ENSP00000349297.5:p.Val332Ala
ENST00000543245.6:c.1064T>C	ENSP00000438689.2:p.Val355Ala
ENST00000578824.5:n.144T>C
ENST00000581378.5:c.713T>C
ENST00000582379.1:n.379T>C
ENST00000583858.5:c.24T>C
NM_000018.3:c.995T>C	NP_000009.1:p.Val332Ala
NM_001033859.2:c.929T>C	NP_001029031.1:p.Val310Ala
NM_001270447.1:c.1064T>C	NP_001257376.1:p.Val355Ala
NM_001270448.1:c.767T>C	NP_001257377.1:p.Val256Ala
XM_006721516.2:c.995T>C	XP_006721579.2:p.Val332Ala
XM_011523829.1:c.995T>C	XP_011522131.1:p.Val332Ala
XM_011523830.1:c.995T>C	XP_011522132.1:p.Val332Ala
XR_934021.1:n.1102T>C
XR_934022.1:n.1102T>C
XR_934023.1:n.1102T>C
XM_006721516.3:c.995T>C	XP_006721579.2:p.Val332Ala
XM_011523829.2:c.995T>C	XP_011522131.1:p.Val332Ala
XM_011523830.2:c.995T>C	XP_011522132.1:p.Val332Ala
XM_024450741.1:c.995T>C	XP_024306509.1:p.Val332Ala
XR_934021.2:n.1054T>C
XR_934022.2:n.1054T>C
XR_934023.2:n.1054T>C
NM_000018.4:c.995T>C MANE Select	NP_000009.1:p.Val332Ala
NM_001033859.3:c.929T>C	NP_001029031.1:p.Val310Ala
NM_001270447.2:c.1064T>C	NP_001257376.1:p.Val355Ala
NM_001270448.2:c.767T>C	NP_001257377.1:p.Val256Ala