Canonical Allele Identifier: CA774735176

Gene: ACADVL

Linked Data

• dbSNP Id: rs1275093952
• gnomAD v4: 17-7224887-G-A
• MyVariant Identifiers: chr17:g.7128206G>A (hg19) ; chr17:g.7224887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224887G>A , CM000679.2:g.7224887G>A	GRCh38
NC_000017.10:g.7128206G>A , CM000679.1:g.7128206G>A	GRCh37
NC_000017.9:g.7068930G>A	NCBI36
NG_007975.1:g.10054G>A
NG_008391.2:g.164C>T
NG_033038.1:g.14658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1827+3G>A MANE Select	ENSP00000349297.5:n.1827+3G>A
ENST00000322910.9:c.*1782+3G>A	ENSP00000325395.5:n.*1782+3G>A
ENST00000350303.9:c.1761+3G>A	ENSP00000344152.5:n.1761+3G>A
ENST00000356839.9:c.1827+3G>A	ENSP00000349297.5:n.1827+3G>A
ENST00000542255.6:c.706+3G>A
ENST00000543245.6:c.1896+3G>A	ENSP00000438689.2:n.1896+3G>A
ENST00000578033.1:n.252+3G>A
ENST00000578319.5:n.408+3G>A
ENST00000578711.1:n.1383G>A
ENST00000578809.5:n.399+3G>A
ENST00000579425.5:n.943+3G>A
ENST00000579546.1:c.562+3G>A
ENST00000583848.5:c.193+3G>A	ENSP00000466487.1:n.193+3G>A
ENST00000583850.5:n.598+3G>A
ENST00000583858.5:c.758+3G>A
NM_000018.3:c.1827+3G>A	NP_000009.1:n.1827+3G>A
NM_001033859.2:c.1761+3G>A	NP_001029031.1:n.1761+3G>A
NM_001270447.1:c.1896+3G>A	NP_001257376.1:n.1896+3G>A
NM_001270448.1:c.1599+3G>A	NP_001257377.1:n.1599+3G>A
XM_006721516.2:c.1848+3G>A	XP_006721579.2:n.1848+3G>A
XM_011523829.1:c.1746+3G>A	XP_011522131.1:n.1746+3G>A
XM_011523830.1:c.1725+3G>A	XP_011522132.1:n.1725+3G>A
XR_934021.1:n.1930+3G>A
XR_934022.1:n.1836+3G>A
XR_934023.1:n.1857+3G>A
XM_006721516.3:c.1848+3G>A	XP_006721579.2:n.1848+3G>A
XM_011523829.2:c.1746+3G>A	XP_011522131.1:n.1746+3G>A
XM_011523830.2:c.1725+3G>A	XP_011522132.1:n.1725+3G>A
XM_024450741.1:c.1815+3G>A	XP_024306509.1:n.1815+3G>A
XR_934021.2:n.1882+3G>A
XR_934022.2:n.1788+3G>A
XR_934023.2:n.1809+3G>A
NM_000018.4:c.1827+3G>A MANE Select	NP_000009.1:n.1827+3G>A
NM_001033859.3:c.1761+3G>A	NP_001029031.1:n.1761+3G>A
NM_001270447.2:c.1896+3G>A	NP_001257376.1:n.1896+3G>A
NM_001270448.2:c.1599+3G>A	NP_001257377.1:n.1599+3G>A