Canonical Allele Identifier: CA497694153

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1642569
• ClinVar RCV Id: RCV002143385
• dbSNP Id: rs1301241478
• gnomAD v2: 17-7127349-T-C
• gnomAD v3: 17-7224030-T-C
• gnomAD v4: 17-7224030-T-C
• MyVariant Identifiers: chr17:g.7127349T>C (hg19) ; chr17:g.7224030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224030T>C , CM000679.2:g.7224030T>C	GRCh38
NC_000017.10:g.7127349T>C , CM000679.1:g.7127349T>C	GRCh37
NC_000017.9:g.7068073T>C	NCBI36
NG_007975.1:g.9197T>C
NG_008391.2:g.1021A>G
NG_033038.1:g.15515A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1395T>C MANE Select	ENSP00000349297.5:p.Asn465=
ENST00000322910.9:c.*1350T>C	ENSP00000325395.5:n.*1350T>C
ENST00000350303.9:c.1329T>C	ENSP00000344152.5:p.Asn443=
ENST00000356839.9:c.1395T>C	ENSP00000349297.5:p.Asn465=
ENST00000542255.6:c.253T>C
ENST00000543245.6:c.1464T>C	ENSP00000438689.2:p.Asn488=
ENST00000578711.1:n.526T>C
ENST00000579425.5:n.511T>C
ENST00000579546.1:c.232T>C
ENST00000579894.5:n.106T>C
ENST00000583074.5:n.114T>C
ENST00000583850.5:n.170T>C
ENST00000583858.5:c.424T>C
ENST00000585203.6:n.586T>C
NM_000018.3:c.1395T>C	NP_000009.1:p.Asn465=
NM_001033859.2:c.1329T>C	NP_001029031.1:p.Asn443=
NM_001270447.1:c.1464T>C	NP_001257376.1:p.Asn488=
NM_001270448.1:c.1167T>C	NP_001257377.1:p.Asn389=
XM_006721516.2:c.1395T>C	XP_006721579.2:p.Asn465=
XM_011523829.1:c.1395T>C	XP_011522131.1:p.Asn465=
XM_011523830.1:c.1395T>C	XP_011522132.1:p.Asn465=
XR_934021.1:n.1502T>C
XR_934022.1:n.1502T>C
XR_934023.1:n.1502T>C
XM_006721516.3:c.1395T>C	XP_006721579.2:p.Asn465=
XM_011523829.2:c.1395T>C	XP_011522131.1:p.Asn465=
XM_011523830.2:c.1395T>C	XP_011522132.1:p.Asn465=
XM_024450741.1:c.1395T>C	XP_024306509.1:p.Asn465=
XR_934021.2:n.1454T>C
XR_934022.2:n.1454T>C
XR_934023.2:n.1454T>C
NM_000018.4:c.1395T>C MANE Select	NP_000009.1:p.Asn465=
NM_001033859.3:c.1329T>C	NP_001029031.1:p.Asn443=
NM_001270447.2:c.1464T>C	NP_001257376.1:p.Asn488=
NM_001270448.2:c.1167T>C	NP_001257377.1:p.Asn389=