Canonical Allele Identifier: CA383519235

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262578-T-C
• MyVariant Identifiers: chr11:g.134132472T>C (hg19) ; chr11:g.134262578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262578T>C , CM000673.2:g.134262578T>C	GRCh38
NC_000011.9:g.134132472T>C , CM000673.1:g.134132472T>C	GRCh37
NC_000011.8:g.133637682T>C	NCBI36
NG_015842.1:g.14039T>C , LRG_448:g.14039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1151T>C MANE Select	ENSP00000281182.5:p.Val384Ala
ENST00000281182.8:c.1151T>C	ENSP00000281182.4:p.Val384Ala
ENST00000374752.6:c.770T>C	ENSP00000363884.4:p.Val257Ala
ENST00000524426.5:c.*881T>C	ENSP00000431310.1:n.*881T>C
ENST00000524502.2:n.151T>C
ENST00000526026.5:c.*840T>C	ENSP00000431532.1:n.*840T>C
ENST00000531338.5:n.1395T>C
ENST00000533387.5:n.2210T>C
NM_014384.2:c.1151T>C , LRG_448t1:c.1151T>C	NP_055199.1:p.Val384Ala
XM_005271501.2:c.1151T>C	XP_005271558.1:p.Val384Ala
XM_011542750.1:c.1151T>C	XP_011541052.1:p.Val384Ala
XR_947819.1:n.1215T>C
XR_947820.1:n.1603T>C
XR_947821.1:n.1360T>C
XR_947822.1:n.1045T>C
XR_947823.1:n.1201T>C
XM_005271505.4:c.*1416T>C	XP_005271562.1:n.*1416T>C
XM_011542750.3:c.1151T>C	XP_011541052.1:p.Val384Ala
XM_017017542.2:c.1151T>C	XP_016873031.1:p.Val384Ala
XM_017017543.2:c.1151T>C	XP_016873032.1:p.Val384Ala
XM_017017544.2:c.*120T>C	XP_016873033.1:n.*120T>C
XM_017017545.2:c.*363T>C	XP_016873034.1:n.*363T>C
XM_017017546.2:c.857T>C	XP_016873035.1:p.Val286Ala
XM_017017547.2:c.857T>C	XP_016873036.1:p.Val286Ala
XM_017017548.2:c.*1787T>C	XP_016873037.1:n.*1787T>C
XM_017017549.2:c.*1561T>C	XP_016873038.1:n.*1561T>C
XM_024448437.1:c.*298T>C	XP_024304205.1:n.*298T>C
XM_024448438.1:c.770T>C	XP_024304206.1:p.Val257Ala
NM_014384.3:c.1151T>C MANE Select	NP_055199.1:p.Val384Ala