Canonical Allele Identifier: CA411772362
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127848C>T , CM000684.2:g.42127848C>T GRCh38
NC_000022.10:g.42523850C>T , CM000684.1:g.42523850C>T GRCh37
NC_000022.9:g.40853794C>T NCBI36
NG_008376.3:g.7144G>A
NG_008376.4:g.7963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.777G>A ENSP00000353241.6:n.777G>A
ENST00000645361.2:c.979G>A MANE Select ENSP00000496150.1:p.Val327Met
ENST00000359033.4:c.826G>A ENSP00000351927.4:p.Val276Met
ENST00000360124.9:c.597G>A ENSP00000353241.5:n.597G>A
ENST00000360608.9:c.979G>A ENSP00000353820.5:p.Val327Met
ENST00000389970.7:c.913G>A ENSP00000374620.4:p.Val305Met
ENST00000488442.1:n.1703G>A
NM_000106.5:c.979G>A NP_000097.3:p.Val327Met
NM_001025161.2:c.826G>A NP_001020332.2:p.Val276Met
XM_011529966.1:c.979G>A XP_011528268.1:p.Val327Met
XM_011529967.1:c.979G>A XP_011528269.1:p.Val327Met
XM_011529968.1:c.979G>A XP_011528270.1:p.Val327Met
XM_011529969.1:c.835G>A XP_011528271.1:p.Val279Met
XM_011529970.1:c.826G>A XP_011528272.1:p.Val276Met
XM_011529971.1:c.835G>A XP_011528273.1:p.Val279Met
XM_011529972.1:c.844-214G>A XP_011528274.1:n.844-214G>A
NM_000106.6:c.979G>A MANE Select NP_000097.3:p.Val327Met
NM_001025161.3:c.826G>A NP_001020332.2:p.Val276Met