Canonical Allele Identifier: CA383515659

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134128490G>C (hg19) ; chr11:g.134258596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134258596G>C , CM000673.2:g.134258596G>C	GRCh38
NC_000011.9:g.134128490G>C , CM000673.1:g.134128490G>C	GRCh37
NC_000011.8:g.133633700G>C	NCBI36
NG_015842.1:g.10057G>C , LRG_448:g.10057G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.462G>C MANE Select	ENSP00000281182.5:p.Lys154Asn
ENST00000281182.8:c.462G>C	ENSP00000281182.4:p.Lys154Asn
ENST00000374752.6:c.110-412G>C	ENSP00000363884.4:n.110-412G>C
ENST00000524426.5:c.*61G>C	ENSP00000431310.1:n.*61G>C
ENST00000524547.5:n.94-412G>C
ENST00000526026.5:c.*151G>C	ENSP00000431532.1:n.*151G>C
ENST00000527082.5:n.316G>C
ENST00000527665.5:n.850G>C
ENST00000528325.5:n.291G>C
ENST00000530533.5:n.325G>C
ENST00000531338.5:n.318G>C
ENST00000533387.5:n.223G>C
ENST00000534240.5:n.223G>C
ENST00000534433.5:n.423-412G>C
NM_014384.2:c.462G>C , LRG_448t1:c.462G>C	NP_055199.1:p.Lys154Asn
XM_005271501.2:c.462G>C	XP_005271558.1:p.Lys154Asn
XM_005271505.2:c.462G>C	XP_005271562.1:p.Lys154Asn
XM_011542750.1:c.462G>C	XP_011541052.1:p.Lys154Asn
XR_947819.1:n.526G>C
XR_947820.1:n.526G>C
XR_947821.1:n.526G>C
XR_947822.1:n.356G>C
XR_947823.1:n.512G>C
XM_005271505.4:c.462G>C	XP_005271562.1:p.Lys154Asn
XM_011542750.3:c.462G>C	XP_011541052.1:p.Lys154Asn
XM_017017542.2:c.462G>C	XP_016873031.1:p.Lys154Asn
XM_017017543.2:c.462G>C	XP_016873032.1:p.Lys154Asn
XM_017017544.2:c.462G>C	XP_016873033.1:p.Lys154Asn
XM_017017545.2:c.462G>C	XP_016873034.1:p.Lys154Asn
XM_017017546.2:c.168G>C	XP_016873035.1:p.Lys56Asn
XM_017017547.2:c.168G>C	XP_016873036.1:p.Lys56Asn
XM_017017548.2:c.462G>C	XP_016873037.1:p.Lys154Asn
XM_017017549.2:c.462G>C	XP_016873038.1:p.Lys154Asn
XM_024448437.1:c.462G>C	XP_024304205.1:p.Lys154Asn
XM_024448438.1:c.81G>C	XP_024304206.1:p.Lys27Asn
NM_014384.3:c.462G>C MANE Select	NP_055199.1:p.Lys154Asn