Canonical Allele Identifier: CA397726163

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128359C>G (hg19) ; chr17:g.7225040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225040C>G , CM000679.2:g.7225040C>G	GRCh38
NC_000017.10:g.7128359C>G , CM000679.1:g.7128359C>G	GRCh37
NC_000017.9:g.7069083C>G	NCBI36
NG_007975.1:g.10207C>G
NG_008391.2:g.11G>C
NG_033038.1:g.14505G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1911C>G MANE Select	ENSP00000349297.5:p.Ile637Met
ENST00000322910.9:c.*1866C>G	ENSP00000325395.5:n.*1866C>G
ENST00000350303.9:c.1845C>G	ENSP00000344152.5:p.Ile615Met
ENST00000356839.9:c.1911C>G	ENSP00000349297.5:p.Ile637Met
ENST00000542255.6:c.790C>G
ENST00000543245.6:c.1980C>G	ENSP00000438689.2:p.Ile660Met
ENST00000578033.1:n.336C>G
ENST00000578319.5:n.492C>G
ENST00000578711.1:n.1536C>G
ENST00000578809.5:n.483C>G
ENST00000579425.5:n.1027C>G
ENST00000583848.5:c.277C>G	ENSP00000466487.1:n.277C>G
ENST00000583850.5:n.682C>G
ENST00000583858.5:c.842C>G
NM_000018.3:c.1911C>G	NP_000009.1:p.Ile637Met
NM_001033859.2:c.1845C>G	NP_001029031.1:p.Ile615Met
NM_001270447.1:c.1980C>G	NP_001257376.1:p.Ile660Met
NM_001270448.1:c.1683C>G	NP_001257377.1:p.Ile561Met
XM_006721516.2:c.1932C>G	XP_006721579.2:p.Ile644Met
XM_011523829.1:c.1830C>G	XP_011522131.1:p.Ile610Met
XM_011523830.1:c.1809C>G	XP_011522132.1:p.Ile603Met
XR_934021.1:n.2014C>G
XR_934022.1:n.1920C>G
XR_934023.1:n.1941C>G
XM_006721516.3:c.1932C>G	XP_006721579.2:p.Ile644Met
XM_011523829.2:c.1830C>G	XP_011522131.1:p.Ile610Met
XM_011523830.2:c.1809C>G	XP_011522132.1:p.Ile603Met
XM_024450741.1:c.1899C>G	XP_024306509.1:p.Ile633Met
XR_934021.2:n.1966C>G
XR_934022.2:n.1872C>G
XR_934023.2:n.1893C>G
NM_000018.4:c.1911C>G MANE Select	NP_000009.1:p.Ile637Met
NM_001033859.3:c.1845C>G	NP_001029031.1:p.Ile615Met
NM_001270447.2:c.1980C>G	NP_001257376.1:p.Ile660Met
NM_001270448.2:c.1683C>G	NP_001257377.1:p.Ile561Met