Canonical Allele Identifier: CA397725924

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128181T>A (hg19) ; chr17:g.7224862T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224862T>A , CM000679.2:g.7224862T>A	GRCh38
NC_000017.10:g.7128181T>A , CM000679.1:g.7128181T>A	GRCh37
NC_000017.9:g.7068905T>A	NCBI36
NG_007975.1:g.10029T>A
NG_008391.2:g.189A>T
NG_033038.1:g.14683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1805T>A MANE Select	ENSP00000349297.5:p.Leu602His
ENST00000322910.9:c.*1760T>A	ENSP00000325395.5:n.*1760T>A
ENST00000350303.9:c.1739T>A	ENSP00000344152.5:p.Leu580His
ENST00000356839.9:c.1805T>A	ENSP00000349297.5:p.Leu602His
ENST00000542255.6:c.684T>A
ENST00000543245.6:c.1874T>A	ENSP00000438689.2:p.Leu625His
ENST00000578033.1:n.230T>A
ENST00000578319.5:n.386T>A
ENST00000578711.1:n.1358T>A
ENST00000578809.5:n.377T>A
ENST00000579425.5:n.921T>A
ENST00000579546.1:c.540T>A
ENST00000583848.5:c.171T>A	ENSP00000466487.1:n.171T>A
ENST00000583850.5:n.576T>A
ENST00000583858.5:c.736T>A
NM_000018.3:c.1805T>A	NP_000009.1:p.Leu602His
NM_001033859.2:c.1739T>A	NP_001029031.1:p.Leu580His
NM_001270447.1:c.1874T>A	NP_001257376.1:p.Leu625His
NM_001270448.1:c.1577T>A	NP_001257377.1:p.Leu526His
XM_006721516.2:c.1826T>A	XP_006721579.2:p.Leu609His
XM_011523829.1:c.1724T>A	XP_011522131.1:p.Leu575His
XM_011523830.1:c.1703T>A	XP_011522132.1:p.Leu568His
XR_934021.1:n.1908T>A
XR_934022.1:n.1814T>A
XR_934023.1:n.1835T>A
XM_006721516.3:c.1826T>A	XP_006721579.2:p.Leu609His
XM_011523829.2:c.1724T>A	XP_011522131.1:p.Leu575His
XM_011523830.2:c.1703T>A	XP_011522132.1:p.Leu568His
XM_024450741.1:c.1793T>A	XP_024306509.1:p.Leu598His
XR_934021.2:n.1860T>A
XR_934022.2:n.1766T>A
XR_934023.2:n.1787T>A
NM_000018.4:c.1805T>A MANE Select	NP_000009.1:p.Leu602His
NM_001033859.3:c.1739T>A	NP_001029031.1:p.Leu580His
NM_001270447.2:c.1874T>A	NP_001257376.1:p.Leu625His
NM_001270448.2:c.1577T>A	NP_001257377.1:p.Leu526His