Canonical Allele Identifier: CA397726064

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128315T>G (hg19) ; chr17:g.7224996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224996T>G , CM000679.2:g.7224996T>G	GRCh38
NC_000017.10:g.7128315T>G , CM000679.1:g.7128315T>G	GRCh37
NC_000017.9:g.7069039T>G	NCBI36
NG_007975.1:g.10163T>G
NG_008391.2:g.55A>C
NG_033038.1:g.14549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1867T>G MANE Select	ENSP00000349297.5:p.Ser623Ala
ENST00000322910.9:c.*1822T>G	ENSP00000325395.5:n.*1822T>G
ENST00000350303.9:c.1801T>G	ENSP00000344152.5:p.Ser601Ala
ENST00000356839.9:c.1867T>G	ENSP00000349297.5:p.Ser623Ala
ENST00000542255.6:c.746T>G
ENST00000543245.6:c.1936T>G	ENSP00000438689.2:p.Ser646Ala
ENST00000578033.1:n.292T>G
ENST00000578319.5:n.448T>G
ENST00000578711.1:n.1492T>G
ENST00000578809.5:n.439T>G
ENST00000579425.5:n.983T>G
ENST00000583848.5:c.233T>G	ENSP00000466487.1:n.233T>G
ENST00000583850.5:n.638T>G
ENST00000583858.5:c.798T>G
NM_000018.3:c.1867T>G	NP_000009.1:p.Ser623Ala
NM_001033859.2:c.1801T>G	NP_001029031.1:p.Ser601Ala
NM_001270447.1:c.1936T>G	NP_001257376.1:p.Ser646Ala
NM_001270448.1:c.1639T>G	NP_001257377.1:p.Ser547Ala
XM_006721516.2:c.1888T>G	XP_006721579.2:p.Ser630Ala
XM_011523829.1:c.1786T>G	XP_011522131.1:p.Ser596Ala
XM_011523830.1:c.1765T>G	XP_011522132.1:p.Ser589Ala
XR_934021.1:n.1970T>G
XR_934022.1:n.1876T>G
XR_934023.1:n.1897T>G
XM_006721516.3:c.1888T>G	XP_006721579.2:p.Ser630Ala
XM_011523829.2:c.1786T>G	XP_011522131.1:p.Ser596Ala
XM_011523830.2:c.1765T>G	XP_011522132.1:p.Ser589Ala
XM_024450741.1:c.1855T>G	XP_024306509.1:p.Ser619Ala
XR_934021.2:n.1922T>G
XR_934022.2:n.1828T>G
XR_934023.2:n.1849T>G
NM_000018.4:c.1867T>G MANE Select	NP_000009.1:p.Ser623Ala
NM_001033859.3:c.1801T>G	NP_001029031.1:p.Ser601Ala
NM_001270447.2:c.1936T>G	NP_001257376.1:p.Ser646Ala
NM_001270448.2:c.1639T>G	NP_001257377.1:p.Ser547Ala