Canonical Allele Identifier: CA8337792

Gene: ACADVL

Linked Data

• dbSNP Id: rs748338462
• ExAC: 17:7125231 C / G
• gnomAD v2: 17-7125231-C-G
• gnomAD v3: 17-7221912-C-G
• gnomAD v4: 17-7221912-C-G
• MyVariant Identifiers: chr17:g.7125231C>G (hg19) ; chr17:g.7221912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221912C>G , CM000679.2:g.7221912C>G	GRCh38
NC_000017.10:g.7125231C>G , CM000679.1:g.7125231C>G	GRCh37
NC_000017.9:g.7065955C>G	NCBI36
NG_007975.1:g.7079C>G
NG_008391.2:g.3139G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.623-40C>G MANE Select	ENSP00000349297.5:n.623-40C>G
ENST00000322910.9:c.*578-40C>G	ENSP00000325395.5:n.*578-40C>G
ENST00000350303.9:c.557-40C>G	ENSP00000344152.5:n.557-40C>G
ENST00000356839.9:c.623-40C>G	ENSP00000349297.5:n.623-40C>G
ENST00000543245.6:c.692-40C>G	ENSP00000438689.2:n.692-40C>G
ENST00000577191.5:n.700-40C>G
ENST00000577857.5:n.439-40C>G
ENST00000579286.5:n.804-40C>G
ENST00000579886.2:c.461-40C>G	ENSP00000463246.1:n.461-40C>G
ENST00000580365.1:n.354-40C>G
ENST00000581378.5:c.341-40C>G
ENST00000581562.5:n.525-40C>G
ENST00000583312.5:c.623-25C>G	ENSP00000467920.1:n.623-25C>G
ENST00000583760.1:n.405-40C>G
NM_000018.3:c.623-40C>G	NP_000009.1:n.623-40C>G
NM_001033859.2:c.557-40C>G	NP_001029031.1:n.557-40C>G
NM_001270447.1:c.692-40C>G	NP_001257376.1:n.692-40C>G
NM_001270448.1:c.395-40C>G	NP_001257377.1:n.395-40C>G
XM_006721516.2:c.623-40C>G	XP_006721579.2:n.623-40C>G
XM_011523829.1:c.623-40C>G	XP_011522131.1:n.623-40C>G
XM_011523830.1:c.623-40C>G	XP_011522132.1:n.623-40C>G
XR_934021.1:n.730-40C>G
XR_934022.1:n.730-40C>G
XR_934023.1:n.730-40C>G
XM_006721516.3:c.623-40C>G	XP_006721579.2:n.623-40C>G
XM_011523829.2:c.623-40C>G	XP_011522131.1:n.623-40C>G
XM_011523830.2:c.623-40C>G	XP_011522132.1:n.623-40C>G
XM_024450741.1:c.623-40C>G	XP_024306509.1:n.623-40C>G
XR_934021.2:n.682-40C>G
XR_934022.2:n.682-40C>G
XR_934023.2:n.682-40C>G
NM_000018.4:c.623-40C>G MANE Select	NP_000009.1:n.623-40C>G
NM_001033859.3:c.557-40C>G	NP_001029031.1:n.557-40C>G
NM_001270447.2:c.692-40C>G	NP_001257376.1:n.692-40C>G
NM_001270448.2:c.395-40C>G	NP_001257377.1:n.395-40C>G