Canonical Allele Identifier: CA6373239

Gene: ACAD8

Linked Data

• dbSNP Id: rs746357281
• ExAC: 11:134132459 A / C
• gnomAD v2: 11-134132459-A-C
• gnomAD v4: 11-134262565-A-C
• MyVariant Identifiers: chr11:g.134132459A>C (hg19) ; chr11:g.134262565A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262565A>C , CM000673.2:g.134262565A>C	GRCh38
NC_000011.9:g.134132459A>C , CM000673.1:g.134132459A>C	GRCh37
NC_000011.8:g.133637669A>C	NCBI36
NG_015842.1:g.14026A>C , LRG_448:g.14026A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1138A>C MANE Select	ENSP00000281182.5:p.Lys380Gln
ENST00000281182.8:c.1138A>C	ENSP00000281182.4:p.Lys380Gln
ENST00000374752.6:c.757A>C	ENSP00000363884.4:p.Lys253Gln
ENST00000524426.5:c.*868A>C	ENSP00000431310.1:n.*868A>C
ENST00000524502.2:n.138A>C
ENST00000526026.5:c.*827A>C	ENSP00000431532.1:n.*827A>C
ENST00000531338.5:n.1382A>C
ENST00000533387.5:n.2197A>C
NM_014384.2:c.1138A>C , LRG_448t1:c.1138A>C	NP_055199.1:p.Lys380Gln
XM_005271501.2:c.1138A>C	XP_005271558.1:p.Lys380Gln
XM_011542750.1:c.1138A>C	XP_011541052.1:p.Lys380Gln
XR_947819.1:n.1202A>C
XR_947820.1:n.1590A>C
XR_947821.1:n.1347A>C
XR_947822.1:n.1032A>C
XR_947823.1:n.1188A>C
XM_005271505.4:c.*1403A>C	XP_005271562.1:n.*1403A>C
XM_011542750.3:c.1138A>C	XP_011541052.1:p.Lys380Gln
XM_017017542.2:c.1138A>C	XP_016873031.1:p.Lys380Gln
XM_017017543.2:c.1138A>C	XP_016873032.1:p.Lys380Gln
XM_017017544.2:c.*107A>C	XP_016873033.1:n.*107A>C
XM_017017545.2:c.*350A>C	XP_016873034.1:n.*350A>C
XM_017017546.2:c.844A>C	XP_016873035.1:p.Lys282Gln
XM_017017547.2:c.844A>C	XP_016873036.1:p.Lys282Gln
XM_017017548.2:c.*1774A>C	XP_016873037.1:n.*1774A>C
XM_017017549.2:c.*1548A>C	XP_016873038.1:n.*1548A>C
XM_024448437.1:c.*285A>C	XP_024304205.1:n.*285A>C
XM_024448438.1:c.757A>C	XP_024304206.1:p.Lys253Gln
NM_014384.3:c.1138A>C MANE Select	NP_055199.1:p.Lys380Gln