Canonical Allele Identifier: CA497694470

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224387-C-G
• MyVariant Identifiers: chr17:g.7127706C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224387C>G , CM000679.2:g.7224387C>G	GRCh38
NC_000017.10:g.7127706C>G , CM000679.1:g.7127706C>G	GRCh37
NC_000017.9:g.7068430C>G	NCBI36
NG_007975.1:g.9554C>G
NG_008391.2:g.664G>C
NG_033038.1:g.15158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1599C>G MANE Select	ENSP00000349297.5:p.Gly533=
ENST00000322910.9:c.*1554C>G	ENSP00000325395.5:n.*1554C>G
ENST00000350303.9:c.1533C>G	ENSP00000344152.5:p.Gly511=
ENST00000356839.9:c.1599C>G	ENSP00000349297.5:p.Gly533=
ENST00000542255.6:c.457C>G
ENST00000543245.6:c.1668C>G	ENSP00000438689.2:p.Gly556=
ENST00000578319.5:n.94C>G
ENST00000578711.1:n.883C>G
ENST00000578809.5:n.171C>G
ENST00000579391.1:n.207C>G
ENST00000579425.5:n.715C>G
ENST00000579546.1:c.338C>G
ENST00000579894.5:n.386C>G
ENST00000582450.1:n.107C>G
ENST00000583074.5:n.220C>G
ENST00000583850.5:n.374C>G
ENST00000583858.5:c.530C>G
ENST00000585203.6:n.790C>G
NM_000018.3:c.1599C>G	NP_000009.1:p.Gly533=
NM_001033859.2:c.1533C>G	NP_001029031.1:p.Gly511=
NM_001270447.1:c.1668C>G	NP_001257376.1:p.Gly556=
NM_001270448.1:c.1371C>G	NP_001257377.1:p.Gly457=
XM_006721516.2:c.1599C>G	XP_006721579.2:p.Gly533=
XM_011523829.1:c.1501C>G	XP_011522131.1:p.Arg501Gly
XM_011523830.1:c.1501C>G	XP_011522132.1:p.Arg501Gly
XR_934021.1:n.1706C>G
XR_934022.1:n.1608C>G
XR_934023.1:n.1608C>G
XM_006721516.3:c.1599C>G	XP_006721579.2:p.Gly533=
XM_011523829.2:c.1501C>G	XP_011522131.1:p.Arg501Gly
XM_011523830.2:c.1501C>G	XP_011522132.1:p.Arg501Gly
XM_024450741.1:c.1501C>G	XP_024306509.1:p.Arg501Gly
XR_934021.2:n.1658C>G
XR_934022.2:n.1560C>G
XR_934023.2:n.1560C>G
NM_000018.4:c.1599C>G MANE Select	NP_000009.1:p.Gly533=
NM_001033859.3:c.1533C>G	NP_001029031.1:p.Gly511=
NM_001270447.2:c.1668C>G	NP_001257376.1:p.Gly556=
NM_001270448.2:c.1371C>G	NP_001257377.1:p.Gly457=