Canonical Allele Identifier: CA1139767790

Gene: CYP2D6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.[42126611C>G;42127941G>A;42129770G>A] , CM000684.2:g.[42126611C>G;42127941G>A;42129770G>A]	GRCh38
NG_008376.3:g.[5222C>T;7051C>T;8381G>C]
NG_008376.4:g.[6041C>T;7870C>T;9200G>C]

Transcript Alleles

HGVS	Amino-acid Change
NM_000106.6:c.[320C>T;886C>T;1457G>C] MANE Select	NP_000097.3:p.[Thr107Ile;Arg296Cys;Ser486Thr]
ENST00000645361.2:c.[320C>T;886C>T;1457G>C] MANE Select	ENSP00000496150.1:p.[Thr107Ile;Arg296Cys;Ser486Thr]
NM_000106.5:c.[320C>T;886C>T;1457G>C]	NP_000097.3:p.[Thr107Ile;Arg296Cys;Ser486Thr]
NM_001025161.2:c.[320C>T;733C>T;1304G>C]	NP_001020332.2:p.[Thr107Ile;Arg245Cys;Ser435Thr]
NM_001025161.3:c.[320C>T;733C>T;1304G>C]	NP_001020332.2:p.[Thr107Ile;Arg245Cys;Ser435Thr]
ENST00000359033.4:c.[320C>T;733C>T;1304G>C]	ENSP00000351927.4:p.[Thr107Ile;Arg245Cys;Ser435Thr]
ENST00000360124.10:c.[320C>T;691-7C>T;1255G>C]	ENSP00000353241.6:[p.Thr107Ile;n.691-7C>T]
ENST00000360124.9:c.[140C>T;511-7C>T;1075G>C]	ENSP00000353241.5:[p.Thr47Ile;n.511-7C>T]
ENST00000360608.9:c.[320C>T;886C>T;1457G>C]	ENSP00000353820.5:p.[Thr107Ile;Arg296Cys;Ser486Thr]
ENST00000389970.7:c.[254C>T;820C>T;1448G>C]	ENSP00000374620.4:p.[Thr85Ile;Arg274Cys;Ser483Thr]
ENST00000488442.1:n.[1044C>T;1610C>T;2181G>C]
XM_011529966.1:c.[320C>T;886C>T;1452+5G>C]	XP_011528268.1:p.[Thr107Ile;Arg296Cys]
XM_011529967.1:c.[320C>T;886C>T;1452+5G>C]	XP_011528269.1:p.[Thr107Ile;Arg296Cys]
XM_011529968.1:c.[320C>T;886C>T;1452+5G>C]	XP_011528270.1:p.[Thr107Ile;Arg296Cys]
XM_011529969.1:c.[177C>T;742C>T;1308+5G>C]	XP_011528271.1:p.[His59=;Arg248Cys]
XM_011529970.1:c.[320C>T;733C>T;1299+5G>C]	XP_011528272.1:p.[Thr107Ile;Arg245Cys]
XM_011529971.1:c.[177C>T;742C>T;1313G>C]	XP_011528273.1:p.[His59=;Arg248Cys;Ser438Thr]