Canonical Allele Identifier: CA2675877

Gene: PLCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155481195G>T , CM000665.2:g.155481195G>T	GRCh38
NC_000003.11:g.155198984G>T , CM000665.1:g.155198984G>T	GRCh37
NC_000003.10:g.156681678G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014996.4:c.4831C>A MANE Select	NP_055811.2:p.Pro1611Thr
ENST00000460012.7:c.4831C>A MANE Select	ENSP00000417502.2:p.Pro1611Thr
NM_001130960.1:c.4855C>A	NP_001124432.1:p.Pro1619Thr
NM_001130960.2:c.4855C>A	NP_001124432.1:p.Pro1619Thr
NM_001130961.1:c.*1874C>A	NP_001124433.1:n.*1874C>A
NM_001130961.2:c.*1874C>A	NP_001124433.1:n.*1874C>A
NM_001349250.1:c.*1871C>A	NP_001336179.1:n.*1871C>A
NM_001349250.2:c.*1871C>A	NP_001336179.1:n.*1871C>A
NM_001349251.1:c.4828C>A	NP_001336180.1:p.Pro1610Thr
NM_001349251.2:c.4828C>A	NP_001336180.1:p.Pro1610Thr
NM_001349252.1:c.*1871C>A	NP_001336181.1:n.*1871C>A
NM_001349252.2:c.*1871C>A	NP_001336181.1:n.*1871C>A
NM_014996.2:c.4741C>A	NP_055811.1:p.Pro1581Thr
NM_014996.3:c.4831C>A	NP_055811.2:p.Pro1611Thr
ENST00000334686.6:c.4741C>A	ENSP00000335469.6:p.Pro1581Thr
ENST00000340059.11:c.4855C>A	ENSP00000345988.7:p.Pro1619Thr
ENST00000447496.6:c.4883C>A	ENSP00000402759.2:n.4883C>A
ENST00000460012.5:c.4741C>A	ENSP00000417502.1:p.Pro1581Thr
ENST00000494598.5:c.2938+4161C>A	ENSP00000419100.1:n.2938+4161C>A
XM_005247238.1:c.4891C>A	XP_005247295.1:p.Pro1631Thr
XM_005247239.1:c.4795C>A	XP_005247296.1:p.Pro1599Thr
XM_011512560.1:c.4891C>A	XP_011510862.1:p.Pro1631Thr
XM_011512560.3:c.4891C>A	XP_011510862.1:p.Pro1631Thr
XM_011512561.1:c.4891C>A	XP_011510863.1:p.Pro1631Thr
XM_011512561.2:c.4891C>A	XP_011510863.1:p.Pro1631Thr
XM_011512562.1:c.4891C>A	XP_011510864.1:p.Pro1631Thr
XM_011512562.3:c.4891C>A	XP_011510864.1:p.Pro1631Thr
XM_011512563.1:c.4891C>A	XP_011510865.1:p.Pro1631Thr
XM_011512564.1:c.4831C>A	XP_011510866.1:p.Pro1611Thr
XM_011512564.2:c.4831C>A	XP_011510866.1:p.Pro1611Thr
XM_011512565.1:c.4801C>A	XP_011510867.1:p.Pro1601Thr
XM_011512565.2:c.4801C>A	XP_011510867.1:p.Pro1601Thr
XM_011512566.1:c.4801C>A	XP_011510868.1:p.Pro1601Thr
XM_011512566.2:c.4801C>A	XP_011510868.1:p.Pro1601Thr
XM_011512567.1:c.*1874C>A	XP_011510869.1:n.*1874C>A
XM_017005923.1:c.4888C>A	XP_016861412.1:p.Pro1630Thr
XM_017005925.1:c.4819C>A	XP_016861414.1:p.Pro1607Thr
XM_017005926.1:c.4801C>A	XP_016861415.1:p.Pro1601Thr
XM_017005927.1:c.3034+4161C>A	XP_016861416.1:n.3034+4161C>A