Canonical Allele Identifier: CA514699176
Community Standard Title: NM_000106.6(CYP2D6):c.471C>G (p.Ala157=)
Gene: CYP2D6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42129067G>C , CM000684.2:g.42129067G>C GRCh38
NC_000022.10:g.42525069G>C , CM000684.1:g.42525069G>C GRCh37
NC_000022.9:g.40855013G>C NCBI36
NG_008376.3:g.5925C>G
NG_008376.4:g.6744C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000106.6:c.471C>G MANE Select NP_000097.3:p.Ala157=
ENST00000645361.2:c.471C>G MANE Select ENSP00000496150.1:p.Ala157=
NM_000106.5:c.471C>G NP_000097.3:p.Ala157=
NM_001025161.2:c.353-123C>G NP_001020332.2:n.353-123C>G
NM_001025161.3:c.353-123C>G NP_001020332.2:n.353-123C>G
ENST00000359033.4:c.353-123C>G ENSP00000351927.4:n.353-123C>G
ENST00000360124.10:c.353-123C>G ENSP00000353241.6:n.353-123C>G
ENST00000360124.9:c.173-123C>G ENSP00000353241.5:n.173-123C>G
ENST00000360608.9:c.471C>G ENSP00000353820.5:p.Ala157=
ENST00000389970.7:c.405C>G ENSP00000374620.4:p.Ala135=
ENST00000488442.1:n.1195C>G
XM_011529966.1:c.471C>G XP_011528268.1:p.Ala157=
XM_011529967.1:c.471C>G XP_011528269.1:p.Ala157=
XM_011529968.1:c.471C>G XP_011528270.1:p.Ala157=
XM_011529969.1:c.328C>G XP_011528271.1:p.Arg110Gly
XM_011529970.1:c.353-123C>G XP_011528272.1:n.353-123C>G
XM_011529971.1:c.328C>G XP_011528273.1:p.Arg110Gly
XM_011529972.1:c.471C>G XP_011528274.1:p.Ala157=