Canonical Allele Identifier: CA397725731

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128004C>A (hg19) ; chr17:g.7224685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224685C>A , CM000679.2:g.7224685C>A	GRCh38
NC_000017.10:g.7128004C>A , CM000679.1:g.7128004C>A	GRCh37
NC_000017.9:g.7068728C>A	NCBI36
NG_007975.1:g.9852C>A
NG_008391.2:g.366G>T
NG_033038.1:g.14860G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1722C>A MANE Select	ENSP00000349297.5:p.Asp574Glu
ENST00000322910.9:c.*1677C>A	ENSP00000325395.5:n.*1677C>A
ENST00000350303.9:c.1656C>A	ENSP00000344152.5:p.Asp552Glu
ENST00000356839.9:c.1722C>A	ENSP00000349297.5:p.Asp574Glu
ENST00000542255.6:c.537-30C>A
ENST00000543245.6:c.1791C>A	ENSP00000438689.2:p.Asp597Glu
ENST00000578033.1:n.53C>A
ENST00000578319.5:n.303C>A
ENST00000578711.1:n.1181C>A
ENST00000578809.5:n.294C>A
ENST00000579425.5:n.838C>A
ENST00000579546.1:c.457C>A
ENST00000583074.5:n.300-30C>A
ENST00000583848.5:c.88C>A	ENSP00000466487.1:p.Pro30Thr
ENST00000583850.5:n.493C>A
ENST00000583858.5:c.653C>A
ENST00000585203.6:n.913C>A
NM_000018.3:c.1722C>A	NP_000009.1:p.Asp574Glu
NM_001033859.2:c.1656C>A	NP_001029031.1:p.Asp552Glu
NM_001270447.1:c.1791C>A	NP_001257376.1:p.Asp597Glu
NM_001270448.1:c.1494C>A	NP_001257377.1:p.Asp498Glu
XM_006721516.2:c.1679-30C>A	XP_006721579.2:n.1679-30C>A
XM_011523829.1:c.1577-30C>A	XP_011522131.1:n.1577-30C>A
XM_011523830.1:c.1620C>A	XP_011522132.1:p.Asp540Glu
XR_934021.1:n.1825C>A
XR_934022.1:n.1731C>A
XR_934023.1:n.1688-30C>A
XM_006721516.3:c.1679-30C>A	XP_006721579.2:n.1679-30C>A
XM_011523829.2:c.1577-30C>A	XP_011522131.1:n.1577-30C>A
XM_011523830.2:c.1620C>A	XP_011522132.1:p.Asp540Glu
XM_024450741.1:c.1710C>A	XP_024306509.1:p.Asp570Glu
XR_934021.2:n.1777C>A
XR_934022.2:n.1683C>A
XR_934023.2:n.1640-30C>A
NM_000018.4:c.1722C>A MANE Select	NP_000009.1:p.Asp574Glu
NM_001033859.3:c.1656C>A	NP_001029031.1:p.Asp552Glu
NM_001270447.2:c.1791C>A	NP_001257376.1:p.Asp597Glu
NM_001270448.2:c.1494C>A	NP_001257377.1:p.Asp498Glu