Canonical Allele Identifier: CA497620207
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222736-G-C
MyVariant Identifiers: chr17:g.7126055G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222736G>C , CM000679.2:g.7222736G>C GRCh38
NC_000017.10:g.7126055G>C , CM000679.1:g.7126055G>C GRCh37
NC_000017.9:g.7066779G>C NCBI36
NG_007975.1:g.7903G>C
NG_008391.2:g.2315C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.948G>C MANE Select ENSP00000349297.5:p.Arg316=
ENST00000322910.9:c.*903G>C ENSP00000325395.5:n.*903G>C
ENST00000350303.9:c.882G>C ENSP00000344152.5:p.Arg294=
ENST00000356839.9:c.948G>C ENSP00000349297.5:p.Arg316=
ENST00000543245.6:c.1017G>C ENSP00000438689.2:p.Arg339=
ENST00000578824.5:n.97G>C
ENST00000581378.5:c.666G>C
ENST00000582379.1:n.332G>C
NM_000018.3:c.948G>C NP_000009.1:p.Arg316=
NM_001033859.2:c.882G>C NP_001029031.1:p.Arg294=
NM_001270447.1:c.1017G>C NP_001257376.1:p.Arg339=
NM_001270448.1:c.720G>C NP_001257377.1:p.Arg240=
XM_006721516.2:c.948G>C XP_006721579.2:p.Arg316=
XM_011523829.1:c.948G>C XP_011522131.1:p.Arg316=
XM_011523830.1:c.948G>C XP_011522132.1:p.Arg316=
XR_934021.1:n.1055G>C
XR_934022.1:n.1055G>C
XR_934023.1:n.1055G>C
XM_006721516.3:c.948G>C XP_006721579.2:p.Arg316=
XM_011523829.2:c.948G>C XP_011522131.1:p.Arg316=
XM_011523830.2:c.948G>C XP_011522132.1:p.Arg316=
XM_024450741.1:c.948G>C XP_024306509.1:p.Arg316=
XR_934021.2:n.1007G>C
XR_934022.2:n.1007G>C
XR_934023.2:n.1007G>C
NM_000018.4:c.948G>C MANE Select NP_000009.1:p.Arg316=
NM_001033859.3:c.882G>C NP_001029031.1:p.Arg294=
NM_001270447.2:c.1017G>C NP_001257376.1:p.Arg339=
NM_001270448.2:c.720G>C NP_001257377.1:p.Arg240=