Canonical Allele Identifier: CA381491450

Gene: PC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66849787C>A , CM000673.2:g.66849787C>A	GRCh38
NC_000011.9:g.66617258C>A , CM000673.1:g.66617258C>A	GRCh37
NC_000011.8:g.66373834C>A	NCBI36
NG_008319.1:g.113590G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001040716.2:c.2971G>T MANE Select	NP_001035806.1:p.Glu991Ter
ENST00000393960.7:c.2971G>T MANE Select	ENSP00000377532.1:p.Glu991Ter
NM_000920.3:c.2971G>T	NP_000911.2:p.Glu991Ter
NM_000920.4:c.2971G>T	NP_000911.2:p.Glu991Ter
NM_001040716.1:c.2971G>T	NP_001035806.1:p.Glu991Ter
NM_022172.2:c.2971G>T	NP_071504.2:p.Glu991Ter
NM_022172.3:c.2971G>T	NP_071504.2:p.Glu991Ter
ENST00000393955.6:c.2971G>T	ENSP00000377527.2:p.Glu991Ter
ENST00000393958.6:c.2971G>T	ENSP00000377530.2:p.Glu991Ter
ENST00000393958.7:c.2971G>T	ENSP00000377530.2:p.Glu991Ter
ENST00000393960.5:c.2971G>T	ENSP00000377532.1:p.Glu991Ter
ENST00000525476.2:n.491G>T
ENST00000528224.1:n.101G>T
ENST00000528224.2:c.*980G>T	ENSP00000498317.1:n.*980G>T
ENST00000529047.5:c.331G>T	ENSP00000435905.1:p.Glu111Ter
ENST00000529047.6:c.2971G>T	ENSP00000435905.2:p.Glu991Ter
ENST00000651036.1:c.2971G>T	ENSP00000498406.1:p.Glu991Ter
ENST00000651469.1:c.*1447G>T	ENSP00000498712.1:n.*1447G>T
ENST00000651854.1:c.2971G>T	ENSP00000498994.1:p.Glu991Ter
ENST00000652125.1:c.2971G>T	ENSP00000498302.1:p.Glu991Ter
XM_005274031.3:c.2971G>T	XP_005274088.1:p.Glu991Ter
XM_005274031.4:c.2971G>T	XP_005274088.1:p.Glu991Ter
XM_005274032.3:c.2971G>T	XP_005274089.1:p.Glu991Ter
XM_005274032.4:c.2971G>T	XP_005274089.1:p.Glu991Ter
XM_006718577.2:c.2971G>T	XP_006718640.1:p.Glu991Ter
XM_006718578.2:c.2971G>T	XP_006718641.1:p.Glu991Ter
XM_006718578.3:c.2971G>T	XP_006718641.1:p.Glu991Ter
XM_006718579.2:c.1450G>T	XP_006718642.1:p.Glu484Ter
XM_006718579.3:c.1450G>T	XP_006718642.1:p.Glu484Ter
XM_011545085.1:c.2971G>T	XP_011543387.1:p.Glu991Ter
XM_011545086.1:c.2971G>T	XP_011543388.1:p.Glu991Ter
XM_011545086.2:c.2971G>T	XP_011543388.1:p.Glu991Ter
XM_011545087.1:c.1675G>T	XP_011543389.1:p.Glu559Ter
XM_011545087.2:c.1675G>T	XP_011543389.1:p.Glu559Ter
XM_011545088.1:c.1606G>T	XP_011543390.1:p.Glu536Ter
XM_017017868.1:c.2971G>T	XP_016873357.1:p.Glu991Ter
XM_017017869.1:c.2971G>T	XP_016873358.1:p.Glu991Ter
XM_017017870.1:c.2971G>T	XP_016873359.1:p.Glu991Ter
XM_017017871.1:c.2971G>T	XP_016873360.1:p.Glu991Ter
XM_017017872.2:c.2971G>T	XP_016873361.1:p.Glu991Ter