Canonical Allele Identifier: CA397723072

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124892C>A (hg19) ; chr17:g.7221573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221573C>A , CM000679.2:g.7221573C>A	GRCh38
NC_000017.10:g.7124892C>A , CM000679.1:g.7124892C>A	GRCh37
NC_000017.9:g.7065616C>A	NCBI36
NG_007975.1:g.6740C>A
NG_008391.2:g.3478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.513C>A MANE Select	ENSP00000349297.5:p.Asp171Glu
ENST00000322910.9:c.*468C>A	ENSP00000325395.5:n.*468C>A
ENST00000350303.9:c.447C>A	ENSP00000344152.5:p.Asp149Glu
ENST00000356839.9:c.513C>A	ENSP00000349297.5:p.Asp171Glu
ENST00000543245.6:c.582C>A	ENSP00000438689.2:p.Asp194Glu
ENST00000577191.5:n.590C>A
ENST00000577433.5:n.721C>A
ENST00000577857.5:n.329C>A
ENST00000579286.5:n.694C>A
ENST00000579886.2:c.351C>A	ENSP00000463246.1:p.Asp117Glu
ENST00000580365.1:n.244C>A
ENST00000581378.5:c.231C>A
ENST00000581562.5:n.525-379C>A
ENST00000582166.1:n.494C>A
ENST00000583312.5:c.513C>A	ENSP00000467920.1:p.Asp171Glu
ENST00000583760.1:n.295C>A
NM_000018.3:c.513C>A	NP_000009.1:p.Asp171Glu
NM_001033859.2:c.447C>A	NP_001029031.1:p.Asp149Glu
NM_001270447.1:c.582C>A	NP_001257376.1:p.Asp194Glu
NM_001270448.1:c.285C>A	NP_001257377.1:p.Asp95Glu
XM_006721516.2:c.513C>A	XP_006721579.2:p.Asp171Glu
XM_011523829.1:c.513C>A	XP_011522131.1:p.Asp171Glu
XM_011523830.1:c.513C>A	XP_011522132.1:p.Asp171Glu
XR_934021.1:n.620C>A
XR_934022.1:n.620C>A
XR_934023.1:n.620C>A
XM_006721516.3:c.513C>A	XP_006721579.2:p.Asp171Glu
XM_011523829.2:c.513C>A	XP_011522131.1:p.Asp171Glu
XM_011523830.2:c.513C>A	XP_011522132.1:p.Asp171Glu
XM_024450741.1:c.513C>A	XP_024306509.1:p.Asp171Glu
XR_934021.2:n.572C>A
XR_934022.2:n.572C>A
XR_934023.2:n.572C>A
NM_000018.4:c.513C>A MANE Select	NP_000009.1:p.Asp171Glu
NM_001033859.3:c.447C>A	NP_001029031.1:p.Asp149Glu
NM_001270447.2:c.582C>A	NP_001257376.1:p.Asp194Glu
NM_001270448.2:c.285C>A	NP_001257377.1:p.Asp95Glu