Canonical Allele Identifier: CA397724121

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071292349
• MyVariant Identifiers: chr17:g.7126100G>C (hg19) ; chr17:g.7222781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222781G>C , CM000679.2:g.7222781G>C	GRCh38
NC_000017.10:g.7126100G>C , CM000679.1:g.7126100G>C	GRCh37
NC_000017.9:g.7066824G>C	NCBI36
NG_007975.1:g.7948G>C
NG_008391.2:g.2270C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.993G>C MANE Select	ENSP00000349297.5:p.Lys331Asn
ENST00000322910.9:c.*948G>C	ENSP00000325395.5:n.*948G>C
ENST00000350303.9:c.927G>C	ENSP00000344152.5:p.Lys309Asn
ENST00000356839.9:c.993G>C	ENSP00000349297.5:p.Lys331Asn
ENST00000543245.6:c.1062G>C	ENSP00000438689.2:p.Lys354Asn
ENST00000578824.5:n.142G>C
ENST00000581378.5:c.711G>C
ENST00000582379.1:n.377G>C
ENST00000583858.5:c.22G>C
NM_000018.3:c.993G>C	NP_000009.1:p.Lys331Asn
NM_001033859.2:c.927G>C	NP_001029031.1:p.Lys309Asn
NM_001270447.1:c.1062G>C	NP_001257376.1:p.Lys354Asn
NM_001270448.1:c.765G>C	NP_001257377.1:p.Lys255Asn
XM_006721516.2:c.993G>C	XP_006721579.2:p.Lys331Asn
XM_011523829.1:c.993G>C	XP_011522131.1:p.Lys331Asn
XM_011523830.1:c.993G>C	XP_011522132.1:p.Lys331Asn
XR_934021.1:n.1100G>C
XR_934022.1:n.1100G>C
XR_934023.1:n.1100G>C
XM_006721516.3:c.993G>C	XP_006721579.2:p.Lys331Asn
XM_011523829.2:c.993G>C	XP_011522131.1:p.Lys331Asn
XM_011523830.2:c.993G>C	XP_011522132.1:p.Lys331Asn
XM_024450741.1:c.993G>C	XP_024306509.1:p.Lys331Asn
XR_934021.2:n.1052G>C
XR_934022.2:n.1052G>C
XR_934023.2:n.1052G>C
NM_000018.4:c.993G>C MANE Select	NP_000009.1:p.Lys331Asn
NM_001033859.3:c.927G>C	NP_001029031.1:p.Lys309Asn
NM_001270447.2:c.1062G>C	NP_001257376.1:p.Lys354Asn
NM_001270448.2:c.765G>C	NP_001257377.1:p.Lys255Asn