Canonical Allele Identifier: CA397725927

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128183T>A (hg19) ; chr17:g.7224864T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224864T>A , CM000679.2:g.7224864T>A	GRCh38
NC_000017.10:g.7128183T>A , CM000679.1:g.7128183T>A	GRCh37
NC_000017.9:g.7068907T>A	NCBI36
NG_007975.1:g.10031T>A
NG_008391.2:g.187A>T
NG_033038.1:g.14681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1807T>A MANE Select	ENSP00000349297.5:p.Cys603Ser
ENST00000322910.9:c.*1762T>A	ENSP00000325395.5:n.*1762T>A
ENST00000350303.9:c.1741T>A	ENSP00000344152.5:p.Cys581Ser
ENST00000356839.9:c.1807T>A	ENSP00000349297.5:p.Cys603Ser
ENST00000542255.6:c.686T>A
ENST00000543245.6:c.1876T>A	ENSP00000438689.2:p.Cys626Ser
ENST00000578033.1:n.232T>A
ENST00000578319.5:n.388T>A
ENST00000578711.1:n.1360T>A
ENST00000578809.5:n.379T>A
ENST00000579425.5:n.923T>A
ENST00000579546.1:c.542T>A
ENST00000583848.5:c.173T>A	ENSP00000466487.1:n.173T>A
ENST00000583850.5:n.578T>A
ENST00000583858.5:c.738T>A
NM_000018.3:c.1807T>A	NP_000009.1:p.Cys603Ser
NM_001033859.2:c.1741T>A	NP_001029031.1:p.Cys581Ser
NM_001270447.1:c.1876T>A	NP_001257376.1:p.Cys626Ser
NM_001270448.1:c.1579T>A	NP_001257377.1:p.Cys527Ser
XM_006721516.2:c.1828T>A	XP_006721579.2:p.Cys610Ser
XM_011523829.1:c.1726T>A	XP_011522131.1:p.Cys576Ser
XM_011523830.1:c.1705T>A	XP_011522132.1:p.Cys569Ser
XR_934021.1:n.1910T>A
XR_934022.1:n.1816T>A
XR_934023.1:n.1837T>A
XM_006721516.3:c.1828T>A	XP_006721579.2:p.Cys610Ser
XM_011523829.2:c.1726T>A	XP_011522131.1:p.Cys576Ser
XM_011523830.2:c.1705T>A	XP_011522132.1:p.Cys569Ser
XM_024450741.1:c.1795T>A	XP_024306509.1:p.Cys599Ser
XR_934021.2:n.1862T>A
XR_934022.2:n.1768T>A
XR_934023.2:n.1789T>A
NM_000018.4:c.1807T>A MANE Select	NP_000009.1:p.Cys603Ser
NM_001033859.3:c.1741T>A	NP_001029031.1:p.Cys581Ser
NM_001270447.2:c.1876T>A	NP_001257376.1:p.Cys626Ser
NM_001270448.2:c.1579T>A	NP_001257377.1:p.Cys527Ser