Canonical Allele Identifier: CA381493753
Gene: PC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66851192C>A , CM000673.2:g.66851192C>A GRCh38
NC_000011.9:g.66618663C>A , CM000673.1:g.66618663C>A GRCh37
NC_000011.8:g.66375239C>A NCBI36
NG_008319.1:g.112185G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393958.7:c.2071G>T ENSP00000377530.2:p.Glu691Ter
ENST00000393960.7:c.2071G>T MANE Select ENSP00000377532.1:p.Glu691Ter
ENST00000525476.2:n.290-1127G>T
ENST00000528224.2:c.*80G>T ENSP00000498317.1:n.*80G>T
ENST00000529047.6:c.2071G>T ENSP00000435905.2:p.Glu691Ter
ENST00000651036.1:c.2071G>T ENSP00000498406.1:p.Glu691Ter
ENST00000651469.1:c.*547G>T ENSP00000498712.1:n.*547G>T
ENST00000651854.1:c.2071G>T ENSP00000498994.1:p.Glu691Ter
ENST00000652125.1:c.2071G>T ENSP00000498302.1:p.Glu691Ter
ENST00000393955.6:c.2071G>T ENSP00000377527.2:p.Glu691Ter
ENST00000393958.6:c.2071G>T ENSP00000377530.2:p.Glu691Ter
ENST00000393960.5:c.2071G>T ENSP00000377532.1:p.Glu691Ter
ENST00000530259.1:n.684G>T
NM_000920.3:c.2071G>T NP_000911.2:p.Glu691Ter
NM_001040716.1:c.2071G>T NP_001035806.1:p.Glu691Ter
NM_022172.2:c.2071G>T NP_071504.2:p.Glu691Ter
XM_005274031.3:c.2071G>T XP_005274088.1:p.Glu691Ter
XM_005274032.3:c.2071G>T XP_005274089.1:p.Glu691Ter
XM_006718577.2:c.2071G>T XP_006718640.1:p.Glu691Ter
XM_006718578.2:c.2071G>T XP_006718641.1:p.Glu691Ter
XM_006718579.2:c.550G>T XP_006718642.1:p.Glu184Ter
XM_011545085.1:c.2071G>T XP_011543387.1:p.Glu691Ter
XM_011545086.1:c.2071G>T XP_011543388.1:p.Glu691Ter
XM_011545087.1:c.775G>T XP_011543389.1:p.Glu259Ter
XM_011545088.1:c.706G>T XP_011543390.1:p.Glu236Ter
XM_005274031.4:c.2071G>T XP_005274088.1:p.Glu691Ter
XM_005274032.4:c.2071G>T XP_005274089.1:p.Glu691Ter
XM_006718578.3:c.2071G>T XP_006718641.1:p.Glu691Ter
XM_006718579.3:c.550G>T XP_006718642.1:p.Glu184Ter
XM_011545086.2:c.2071G>T XP_011543388.1:p.Glu691Ter
XM_011545087.2:c.775G>T XP_011543389.1:p.Glu259Ter
XM_017017868.1:c.2071G>T XP_016873357.1:p.Glu691Ter
XM_017017869.1:c.2071G>T XP_016873358.1:p.Glu691Ter
XM_017017870.1:c.2071G>T XP_016873359.1:p.Glu691Ter
XM_017017871.1:c.2071G>T XP_016873360.1:p.Glu691Ter
XM_017017872.2:c.2071G>T XP_016873361.1:p.Glu691Ter
NM_000920.4:c.2071G>T NP_000911.2:p.Glu691Ter
NM_001040716.2:c.2071G>T MANE Select NP_001035806.1:p.Glu691Ter
NM_022172.3:c.2071G>T NP_071504.2:p.Glu691Ter