Canonical Allele Identifier: CA397725952

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128193G>A (hg19) ; chr17:g.7224874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224874G>A , CM000679.2:g.7224874G>A	GRCh38
NC_000017.10:g.7128193G>A , CM000679.1:g.7128193G>A	GRCh37
NC_000017.9:g.7068917G>A	NCBI36
NG_007975.1:g.10041G>A
NG_008391.2:g.177C>T
NG_033038.1:g.14671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1817G>A MANE Select	ENSP00000349297.5:p.Trp606Ter
ENST00000322910.9:c.*1772G>A	ENSP00000325395.5:n.*1772G>A
ENST00000350303.9:c.1751G>A	ENSP00000344152.5:p.Trp584Ter
ENST00000356839.9:c.1817G>A	ENSP00000349297.5:p.Trp606Ter
ENST00000542255.6:c.696G>A
ENST00000543245.6:c.1886G>A	ENSP00000438689.2:p.Trp629Ter
ENST00000578033.1:n.242G>A
ENST00000578319.5:n.398G>A
ENST00000578711.1:n.1370G>A
ENST00000578809.5:n.389G>A
ENST00000579425.5:n.933G>A
ENST00000579546.1:c.552G>A
ENST00000583848.5:c.183G>A	ENSP00000466487.1:n.183G>A
ENST00000583850.5:n.588G>A
ENST00000583858.5:c.748G>A
NM_000018.3:c.1817G>A	NP_000009.1:p.Trp606Ter
NM_001033859.2:c.1751G>A	NP_001029031.1:p.Trp584Ter
NM_001270447.1:c.1886G>A	NP_001257376.1:p.Trp629Ter
NM_001270448.1:c.1589G>A	NP_001257377.1:p.Trp530Ter
XM_006721516.2:c.1838G>A	XP_006721579.2:p.Trp613Ter
XM_011523829.1:c.1736G>A	XP_011522131.1:p.Trp579Ter
XM_011523830.1:c.1715G>A	XP_011522132.1:p.Trp572Ter
XR_934021.1:n.1920G>A
XR_934022.1:n.1826G>A
XR_934023.1:n.1847G>A
XM_006721516.3:c.1838G>A	XP_006721579.2:p.Trp613Ter
XM_011523829.2:c.1736G>A	XP_011522131.1:p.Trp579Ter
XM_011523830.2:c.1715G>A	XP_011522132.1:p.Trp572Ter
XM_024450741.1:c.1805G>A	XP_024306509.1:p.Trp602Ter
XR_934021.2:n.1872G>A
XR_934022.2:n.1778G>A
XR_934023.2:n.1799G>A
NM_000018.4:c.1817G>A MANE Select	NP_000009.1:p.Trp606Ter
NM_001033859.3:c.1751G>A	NP_001029031.1:p.Trp584Ter
NM_001270447.2:c.1886G>A	NP_001257376.1:p.Trp629Ter
NM_001270448.2:c.1589G>A	NP_001257377.1:p.Trp530Ter