Canonical Allele Identifier: CA8337901

Gene: ACADVL

Linked Data

• dbSNP Id: rs749598830
• ExAC: 17:7126001 G / C
• gnomAD v2: 17-7126001-G-C
• gnomAD v4: 17-7222682-G-C
• MyVariant Identifiers: chr17:g.7126001G>C (hg19) ; chr17:g.7222682G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222682G>C , CM000679.2:g.7222682G>C	GRCh38
NC_000017.10:g.7126001G>C , CM000679.1:g.7126001G>C	GRCh37
NC_000017.9:g.7066725G>C	NCBI36
NG_007975.1:g.7849G>C
NG_008391.2:g.2369C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.894G>C MANE Select	ENSP00000349297.5:p.Lys298Asn
ENST00000322910.9:c.*849G>C	ENSP00000325395.5:n.*849G>C
ENST00000350303.9:c.828G>C	ENSP00000344152.5:p.Lys276Asn
ENST00000356839.9:c.894G>C	ENSP00000349297.5:p.Lys298Asn
ENST00000543245.6:c.963G>C	ENSP00000438689.2:p.Lys321Asn
ENST00000578824.5:n.43G>C
ENST00000581378.5:c.612G>C
ENST00000582379.1:n.278G>C
NM_000018.3:c.894G>C	NP_000009.1:p.Lys298Asn
NM_001033859.2:c.828G>C	NP_001029031.1:p.Lys276Asn
NM_001270447.1:c.963G>C	NP_001257376.1:p.Lys321Asn
NM_001270448.1:c.666G>C	NP_001257377.1:p.Lys222Asn
XM_006721516.2:c.894G>C	XP_006721579.2:p.Lys298Asn
XM_011523829.1:c.894G>C	XP_011522131.1:p.Lys298Asn
XM_011523830.1:c.894G>C	XP_011522132.1:p.Lys298Asn
XR_934021.1:n.1001G>C
XR_934022.1:n.1001G>C
XR_934023.1:n.1001G>C
XM_006721516.3:c.894G>C	XP_006721579.2:p.Lys298Asn
XM_011523829.2:c.894G>C	XP_011522131.1:p.Lys298Asn
XM_011523830.2:c.894G>C	XP_011522132.1:p.Lys298Asn
XM_024450741.1:c.894G>C	XP_024306509.1:p.Lys298Asn
XR_934021.2:n.953G>C
XR_934022.2:n.953G>C
XR_934023.2:n.953G>C
NM_000018.4:c.894G>C MANE Select	NP_000009.1:p.Lys298Asn
NM_001033859.3:c.828G>C	NP_001029031.1:p.Lys276Asn
NM_001270447.2:c.963G>C	NP_001257376.1:p.Lys321Asn
NM_001270448.2:c.666G>C	NP_001257377.1:p.Lys222Asn