Canonical Allele Identifier: CA774735192

Gene: ACADVL

Linked Data

• dbSNP Id: rs1332385483
• gnomAD v4: 17-7224905-G-A
• MyVariant Identifiers: chr17:g.7128224G>A (hg19) ; chr17:g.7224905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224905G>A , CM000679.2:g.7224905G>A	GRCh38
NC_000017.10:g.7128224G>A , CM000679.1:g.7128224G>A	GRCh37
NC_000017.9:g.7068948G>A	NCBI36
NG_007975.1:g.10072G>A
NG_008391.2:g.146C>T
NG_033038.1:g.14640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1827+21G>A MANE Select	ENSP00000349297.5:n.1827+21G>A
ENST00000322910.9:c.*1782+21G>A	ENSP00000325395.5:n.*1782+21G>A
ENST00000350303.9:c.1761+21G>A	ENSP00000344152.5:n.1761+21G>A
ENST00000356839.9:c.1827+21G>A	ENSP00000349297.5:n.1827+21G>A
ENST00000542255.6:c.706+21G>A
ENST00000543245.6:c.1896+21G>A	ENSP00000438689.2:n.1896+21G>A
ENST00000578033.1:n.252+21G>A
ENST00000578319.5:n.408+21G>A
ENST00000578711.1:n.1401G>A
ENST00000578809.5:n.399+21G>A
ENST00000579425.5:n.943+21G>A
ENST00000579546.1:c.562+21G>A
ENST00000583848.5:c.193+21G>A	ENSP00000466487.1:n.193+21G>A
ENST00000583850.5:n.598+21G>A
ENST00000583858.5:c.758+21G>A
NM_000018.3:c.1827+21G>A	NP_000009.1:n.1827+21G>A
NM_001033859.2:c.1761+21G>A	NP_001029031.1:n.1761+21G>A
NM_001270447.1:c.1896+21G>A	NP_001257376.1:n.1896+21G>A
NM_001270448.1:c.1599+21G>A	NP_001257377.1:n.1599+21G>A
XM_006721516.2:c.1848+21G>A	XP_006721579.2:n.1848+21G>A
XM_011523829.1:c.1746+21G>A	XP_011522131.1:n.1746+21G>A
XM_011523830.1:c.1725+21G>A	XP_011522132.1:n.1725+21G>A
XR_934021.1:n.1930+21G>A
XR_934022.1:n.1836+21G>A
XR_934023.1:n.1857+21G>A
XM_006721516.3:c.1848+21G>A	XP_006721579.2:n.1848+21G>A
XM_011523829.2:c.1746+21G>A	XP_011522131.1:n.1746+21G>A
XM_011523830.2:c.1725+21G>A	XP_011522132.1:n.1725+21G>A
XM_024450741.1:c.1815+21G>A	XP_024306509.1:n.1815+21G>A
XR_934021.2:n.1882+21G>A
XR_934022.2:n.1788+21G>A
XR_934023.2:n.1809+21G>A
NM_000018.4:c.1827+21G>A MANE Select	NP_000009.1:n.1827+21G>A
NM_001033859.3:c.1761+21G>A	NP_001029031.1:n.1761+21G>A
NM_001270447.2:c.1896+21G>A	NP_001257376.1:n.1896+21G>A
NM_001270448.2:c.1599+21G>A	NP_001257377.1:n.1599+21G>A