Canonical Allele Identifier: CA397725451

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127704G>A (hg19) ; chr17:g.7224385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224385G>A , CM000679.2:g.7224385G>A	GRCh38
NC_000017.10:g.7127704G>A , CM000679.1:g.7127704G>A	GRCh37
NC_000017.9:g.7068428G>A	NCBI36
NG_007975.1:g.9552G>A
NG_008391.2:g.666C>T
NG_033038.1:g.15160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1597G>A MANE Select	ENSP00000349297.5:p.Gly533Ser
ENST00000322910.9:c.*1552G>A	ENSP00000325395.5:n.*1552G>A
ENST00000350303.9:c.1531G>A	ENSP00000344152.5:p.Gly511Ser
ENST00000356839.9:c.1597G>A	ENSP00000349297.5:p.Gly533Ser
ENST00000542255.6:c.455G>A
ENST00000543245.6:c.1666G>A	ENSP00000438689.2:p.Gly556Ser
ENST00000578319.5:n.92G>A
ENST00000578711.1:n.881G>A
ENST00000578809.5:n.169G>A
ENST00000579391.1:n.205G>A
ENST00000579425.5:n.713G>A
ENST00000579546.1:c.336G>A
ENST00000579894.5:n.384G>A
ENST00000582450.1:n.105G>A
ENST00000583074.5:n.218G>A
ENST00000583850.5:n.372G>A
ENST00000583858.5:c.528G>A
ENST00000585203.6:n.788G>A
NM_000018.3:c.1597G>A	NP_000009.1:p.Gly533Ser
NM_001033859.2:c.1531G>A	NP_001029031.1:p.Gly511Ser
NM_001270447.1:c.1666G>A	NP_001257376.1:p.Gly556Ser
NM_001270448.1:c.1369G>A	NP_001257377.1:p.Gly457Ser
XM_006721516.2:c.1597G>A	XP_006721579.2:p.Gly533Ser
XM_011523829.1:c.1499G>A	XP_011522131.1:p.Trp500Ter
XM_011523830.1:c.1499G>A	XP_011522132.1:p.Trp500Ter
XR_934021.1:n.1704G>A
XR_934022.1:n.1606G>A
XR_934023.1:n.1606G>A
XM_006721516.3:c.1597G>A	XP_006721579.2:p.Gly533Ser
XM_011523829.2:c.1499G>A	XP_011522131.1:p.Trp500Ter
XM_011523830.2:c.1499G>A	XP_011522132.1:p.Trp500Ter
XM_024450741.1:c.1499G>A	XP_024306509.1:p.Trp500Ter
XR_934021.2:n.1656G>A
XR_934022.2:n.1558G>A
XR_934023.2:n.1558G>A
NM_000018.4:c.1597G>A MANE Select	NP_000009.1:p.Gly533Ser
NM_001033859.3:c.1531G>A	NP_001029031.1:p.Gly511Ser
NM_001270447.2:c.1666G>A	NP_001257376.1:p.Gly556Ser
NM_001270448.2:c.1369G>A	NP_001257377.1:p.Gly457Ser