Canonical Allele Identifier: CA477723393

Gene: ACAD8

Linked Data

• dbSNP Id: rs1939947416
• gnomAD v3: 11-134262561-C-T
• gnomAD v4: 11-134262561-C-T
• MyVariant Identifiers: chr11:g.134132455C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262561C>T , CM000673.2:g.134262561C>T	GRCh38
NC_000011.9:g.134132455C>T , CM000673.1:g.134132455C>T	GRCh37
NC_000011.8:g.133637665C>T	NCBI36
NG_015842.1:g.14022C>T , LRG_448:g.14022C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1134C>T MANE Select	ENSP00000281182.5:p.Tyr378=
ENST00000281182.8:c.1134C>T	ENSP00000281182.4:p.Tyr378=
ENST00000374752.6:c.753C>T	ENSP00000363884.4:p.Tyr251=
ENST00000524426.5:c.*864C>T	ENSP00000431310.1:n.*864C>T
ENST00000524502.2:n.134C>T
ENST00000526026.5:c.*823C>T	ENSP00000431532.1:n.*823C>T
ENST00000531338.5:n.1378C>T
ENST00000533387.5:n.2193C>T
NM_014384.2:c.1134C>T , LRG_448t1:c.1134C>T	NP_055199.1:p.Tyr378=
XM_005271501.2:c.1134C>T	XP_005271558.1:p.Tyr378=
XM_011542750.1:c.1134C>T	XP_011541052.1:p.Tyr378=
XR_947819.1:n.1198C>T
XR_947820.1:n.1586C>T
XR_947821.1:n.1343C>T
XR_947822.1:n.1028C>T
XR_947823.1:n.1184C>T
XM_005271505.4:c.*1399C>T	XP_005271562.1:n.*1399C>T
XM_011542750.3:c.1134C>T	XP_011541052.1:p.Tyr378=
XM_017017542.2:c.1134C>T	XP_016873031.1:p.Tyr378=
XM_017017543.2:c.1134C>T	XP_016873032.1:p.Tyr378=
XM_017017544.2:c.*103C>T	XP_016873033.1:n.*103C>T
XM_017017545.2:c.*346C>T	XP_016873034.1:n.*346C>T
XM_017017546.2:c.840C>T	XP_016873035.1:p.Tyr280=
XM_017017547.2:c.840C>T	XP_016873036.1:p.Tyr280=
XM_017017548.2:c.*1770C>T	XP_016873037.1:n.*1770C>T
XM_017017549.2:c.*1544C>T	XP_016873038.1:n.*1544C>T
XM_024448437.1:c.*281C>T	XP_024304205.1:n.*281C>T
XM_024448438.1:c.753C>T	XP_024304206.1:p.Tyr251=
NM_014384.3:c.1134C>T MANE Select	NP_055199.1:p.Tyr378=