Canonical Allele Identifier: CA8338322

Gene: ACADVL

Linked Data

• dbSNP Id: rs750199760
• ExAC: 17:7128438 C / T
• gnomAD v2: 17-7128438-C-T
• gnomAD v4: 17-7225119-C-T
• MyVariant Identifiers: chr17:g.7128438C>T (hg19) ; chr17:g.7225119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225119C>T , CM000679.2:g.7225119C>T	GRCh38
NC_000017.10:g.7128438C>T , CM000679.1:g.7128438C>T	GRCh37
NC_000017.9:g.7069162C>T	NCBI36
NG_007975.1:g.10286C>T
NG_033038.1:g.14426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*22C>T MANE Select	ENSP00000349297.5:n.*22C>T
ENST00000322910.9:c.*1945C>T	ENSP00000325395.5:n.*1945C>T
ENST00000350303.9:c.*22C>T	ENSP00000344152.5:n.*22C>T
ENST00000356839.9:c.*22C>T	ENSP00000349297.5:n.*22C>T
ENST00000542255.6:c.869C>T
ENST00000543245.6:c.*22C>T	ENSP00000438689.2:n.*22C>T
ENST00000578033.1:n.415C>T
ENST00000578319.5:n.571C>T
ENST00000578711.1:n.1615C>T
ENST00000578809.5:n.562C>T
ENST00000579425.5:n.1106C>T
ENST00000583848.5:c.356C>T	ENSP00000466487.1:n.356C>T
ENST00000583850.5:n.761C>T
ENST00000583858.5:c.921C>T
NM_000018.3:c.*22C>T	NP_000009.1:n.*22C>T
NM_001033859.2:c.*22C>T	NP_001029031.1:n.*22C>T
NM_001270447.1:c.*22C>T	NP_001257376.1:n.*22C>T
NM_001270448.1:c.*22C>T	NP_001257377.1:n.*22C>T
XM_006721516.2:c.*22C>T	XP_006721579.2:n.*22C>T
XM_011523829.1:c.*22C>T	XP_011522131.1:n.*22C>T
XM_011523830.1:c.*22C>T	XP_011522132.1:n.*22C>T
XR_934021.1:n.2093C>T
XR_934022.1:n.1999C>T
XR_934023.1:n.2020C>T
XM_006721516.3:c.*22C>T	XP_006721579.2:n.*22C>T
XM_011523829.2:c.*22C>T	XP_011522131.1:n.*22C>T
XM_011523830.2:c.*22C>T	XP_011522132.1:n.*22C>T
XM_024450741.1:c.*22C>T	XP_024306509.1:n.*22C>T
XR_934021.2:n.2045C>T
XR_934022.2:n.1951C>T
XR_934023.2:n.1972C>T
NM_000018.4:c.*22C>T MANE Select	NP_000009.1:n.*22C>T
NM_001033859.3:c.*22C>T	NP_001029031.1:n.*22C>T
NM_001270447.2:c.*22C>T	NP_001257376.1:n.*22C>T
NM_001270448.2:c.*22C>T	NP_001257377.1:n.*22C>T