Canonical Allele Identifier: CA397726052

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128310T>C (hg19) ; chr17:g.7224991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224991T>C , CM000679.2:g.7224991T>C	GRCh38
NC_000017.10:g.7128310T>C , CM000679.1:g.7128310T>C	GRCh37
NC_000017.9:g.7069034T>C	NCBI36
NG_007975.1:g.10158T>C
NG_008391.2:g.60A>G
NG_033038.1:g.14554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1862T>C MANE Select	ENSP00000349297.5:p.Leu621Pro
ENST00000322910.9:c.*1817T>C	ENSP00000325395.5:n.*1817T>C
ENST00000350303.9:c.1796T>C	ENSP00000344152.5:p.Leu599Pro
ENST00000356839.9:c.1862T>C	ENSP00000349297.5:p.Leu621Pro
ENST00000542255.6:c.741T>C
ENST00000543245.6:c.1931T>C	ENSP00000438689.2:p.Leu644Pro
ENST00000578033.1:n.287T>C
ENST00000578319.5:n.443T>C
ENST00000578711.1:n.1487T>C
ENST00000578809.5:n.434T>C
ENST00000579425.5:n.978T>C
ENST00000583848.5:c.228T>C	ENSP00000466487.1:n.228T>C
ENST00000583850.5:n.633T>C
ENST00000583858.5:c.793T>C
NM_000018.3:c.1862T>C	NP_000009.1:p.Leu621Pro
NM_001033859.2:c.1796T>C	NP_001029031.1:p.Leu599Pro
NM_001270447.1:c.1931T>C	NP_001257376.1:p.Leu644Pro
NM_001270448.1:c.1634T>C	NP_001257377.1:p.Leu545Pro
XM_006721516.2:c.1883T>C	XP_006721579.2:p.Leu628Pro
XM_011523829.1:c.1781T>C	XP_011522131.1:p.Leu594Pro
XM_011523830.1:c.1760T>C	XP_011522132.1:p.Leu587Pro
XR_934021.1:n.1965T>C
XR_934022.1:n.1871T>C
XR_934023.1:n.1892T>C
XM_006721516.3:c.1883T>C	XP_006721579.2:p.Leu628Pro
XM_011523829.2:c.1781T>C	XP_011522131.1:p.Leu594Pro
XM_011523830.2:c.1760T>C	XP_011522132.1:p.Leu587Pro
XM_024450741.1:c.1850T>C	XP_024306509.1:p.Leu617Pro
XR_934021.2:n.1917T>C
XR_934022.2:n.1823T>C
XR_934023.2:n.1844T>C
NM_000018.4:c.1862T>C MANE Select	NP_000009.1:p.Leu621Pro
NM_001033859.3:c.1796T>C	NP_001029031.1:p.Leu599Pro
NM_001270447.2:c.1931T>C	NP_001257376.1:p.Leu644Pro
NM_001270448.2:c.1634T>C	NP_001257377.1:p.Leu545Pro