Canonical Allele Identifier: CA397725999

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128282G>A (hg19) ; chr17:g.7224963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224963G>A , CM000679.2:g.7224963G>A	GRCh38
NC_000017.10:g.7128282G>A , CM000679.1:g.7128282G>A	GRCh37
NC_000017.9:g.7069006G>A	NCBI36
NG_007975.1:g.10130G>A
NG_008391.2:g.88C>T
NG_033038.1:g.14582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1834G>A MANE Select	ENSP00000349297.5:p.Ala612Thr
ENST00000322910.9:c.*1789G>A	ENSP00000325395.5:n.*1789G>A
ENST00000350303.9:c.1768G>A	ENSP00000344152.5:p.Ala590Thr
ENST00000356839.9:c.1834G>A	ENSP00000349297.5:p.Ala612Thr
ENST00000542255.6:c.713G>A
ENST00000543245.6:c.1903G>A	ENSP00000438689.2:p.Ala635Thr
ENST00000578033.1:n.259G>A
ENST00000578319.5:n.415G>A
ENST00000578711.1:n.1459G>A
ENST00000578809.5:n.406G>A
ENST00000579425.5:n.950G>A
ENST00000579546.1:c.569G>A
ENST00000583848.5:c.200G>A	ENSP00000466487.1:n.200G>A
ENST00000583850.5:n.605G>A
ENST00000583858.5:c.765G>A
NM_000018.3:c.1834G>A	NP_000009.1:p.Ala612Thr
NM_001033859.2:c.1768G>A	NP_001029031.1:p.Ala590Thr
NM_001270447.1:c.1903G>A	NP_001257376.1:p.Ala635Thr
NM_001270448.1:c.1606G>A	NP_001257377.1:p.Ala536Thr
XM_006721516.2:c.1855G>A	XP_006721579.2:p.Ala619Thr
XM_011523829.1:c.1753G>A	XP_011522131.1:p.Ala585Thr
XM_011523830.1:c.1732G>A	XP_011522132.1:p.Ala578Thr
XR_934021.1:n.1937G>A
XR_934022.1:n.1843G>A
XR_934023.1:n.1864G>A
XM_006721516.3:c.1855G>A	XP_006721579.2:p.Ala619Thr
XM_011523829.2:c.1753G>A	XP_011522131.1:p.Ala585Thr
XM_011523830.2:c.1732G>A	XP_011522132.1:p.Ala578Thr
XM_024450741.1:c.1822G>A	XP_024306509.1:p.Ala608Thr
XR_934021.2:n.1889G>A
XR_934022.2:n.1795G>A
XR_934023.2:n.1816G>A
NM_000018.4:c.1834G>A MANE Select	NP_000009.1:p.Ala612Thr
NM_001033859.3:c.1768G>A	NP_001029031.1:p.Ala590Thr
NM_001270447.2:c.1903G>A	NP_001257376.1:p.Ala635Thr
NM_001270448.2:c.1606G>A	NP_001257377.1:p.Ala536Thr