Canonical Allele Identifier: CA8338278

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 753044
• ClinVar RCV Id: RCV001503800
• dbSNP Id: rs372630480
• ExAC: 17:7128212 C / T
• gnomAD v2: 17-7128212-C-T
• gnomAD v3: 17-7224893-C-T
• gnomAD v4: 17-7224893-C-T
• MyVariant Identifiers: chr17:g.7128212C>T (hg19) ; chr17:g.7224893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224893C>T , CM000679.2:g.7224893C>T	GRCh38
NC_000017.10:g.7128212C>T , CM000679.1:g.7128212C>T	GRCh37
NC_000017.9:g.7068936C>T	NCBI36
NG_007975.1:g.10060C>T
NG_008391.2:g.158G>A
NG_033038.1:g.14652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1827+9C>T MANE Select	ENSP00000349297.5:n.1827+9C>T
ENST00000322910.9:c.*1782+9C>T	ENSP00000325395.5:n.*1782+9C>T
ENST00000350303.9:c.1761+9C>T	ENSP00000344152.5:n.1761+9C>T
ENST00000356839.9:c.1827+9C>T	ENSP00000349297.5:n.1827+9C>T
ENST00000542255.6:c.706+9C>T
ENST00000543245.6:c.1896+9C>T	ENSP00000438689.2:n.1896+9C>T
ENST00000578033.1:n.252+9C>T
ENST00000578319.5:n.408+9C>T
ENST00000578711.1:n.1389C>T
ENST00000578809.5:n.399+9C>T
ENST00000579425.5:n.943+9C>T
ENST00000579546.1:c.562+9C>T
ENST00000583848.5:c.193+9C>T	ENSP00000466487.1:n.193+9C>T
ENST00000583850.5:n.598+9C>T
ENST00000583858.5:c.758+9C>T
NM_000018.3:c.1827+9C>T	NP_000009.1:n.1827+9C>T
NM_001033859.2:c.1761+9C>T	NP_001029031.1:n.1761+9C>T
NM_001270447.1:c.1896+9C>T	NP_001257376.1:n.1896+9C>T
NM_001270448.1:c.1599+9C>T	NP_001257377.1:n.1599+9C>T
XM_006721516.2:c.1848+9C>T	XP_006721579.2:n.1848+9C>T
XM_011523829.1:c.1746+9C>T	XP_011522131.1:n.1746+9C>T
XM_011523830.1:c.1725+9C>T	XP_011522132.1:n.1725+9C>T
XR_934021.1:n.1930+9C>T
XR_934022.1:n.1836+9C>T
XR_934023.1:n.1857+9C>T
XM_006721516.3:c.1848+9C>T	XP_006721579.2:n.1848+9C>T
XM_011523829.2:c.1746+9C>T	XP_011522131.1:n.1746+9C>T
XM_011523830.2:c.1725+9C>T	XP_011522132.1:n.1725+9C>T
XM_024450741.1:c.1815+9C>T	XP_024306509.1:n.1815+9C>T
XR_934021.2:n.1882+9C>T
XR_934022.2:n.1788+9C>T
XR_934023.2:n.1809+9C>T
NM_000018.4:c.1827+9C>T MANE Select	NP_000009.1:n.1827+9C>T
NM_001033859.3:c.1761+9C>T	NP_001029031.1:n.1761+9C>T
NM_001270447.2:c.1896+9C>T	NP_001257376.1:n.1896+9C>T
NM_001270448.2:c.1599+9C>T	NP_001257377.1:n.1599+9C>T