Canonical Allele Identifier: CA901106221

Gene: PLCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155697583C>G , CM000665.2:g.155697583C>G	GRCh38
NC_000003.11:g.155415372C>G , CM000665.1:g.155415372C>G	GRCh37
NC_000003.10:g.156898066C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014996.4:c.79+6563G>C MANE Select	NP_055811.2:n.79+6563G>C
ENST00000460012.7:c.79+6563G>C MANE Select	ENSP00000417502.2:n.79+6563G>C
NM_001349251.1:c.79+6563G>C	NP_001336180.1:n.79+6563G>C
NM_001349251.2:c.79+6563G>C	NP_001336180.1:n.79+6563G>C
NM_001349252.1:c.79+6563G>C	NP_001336181.1:n.79+6563G>C
NM_001349252.2:c.79+6563G>C	NP_001336181.1:n.79+6563G>C
NM_014996.2:c.-12+6563G>C	NP_055811.1:n.-12+6563G>C
NM_014996.3:c.79+6563G>C	NP_055811.2:n.79+6563G>C
ENST00000334686.6:c.-12+6563G>C	ENSP00000335469.6:n.-12+6563G>C
ENST00000460012.5:c.-12+6563G>C	ENSP00000417502.1:n.-12+6563G>C
XM_005247238.1:c.79+6563G>C	XP_005247295.1:n.79+6563G>C
XM_011512560.1:c.79+6563G>C	XP_011510862.1:n.79+6563G>C
XM_011512560.3:c.79+6563G>C	XP_011510862.1:n.79+6563G>C
XM_011512561.1:c.79+6563G>C	XP_011510863.1:n.79+6563G>C
XM_011512561.2:c.79+6563G>C	XP_011510863.1:n.79+6563G>C
XM_011512562.1:c.79+6563G>C	XP_011510864.1:n.79+6563G>C
XM_011512562.3:c.79+6563G>C	XP_011510864.1:n.79+6563G>C
XM_011512563.1:c.79+6563G>C	XP_011510865.1:n.79+6563G>C
XM_011512564.1:c.79+6563G>C	XP_011510866.1:n.79+6563G>C
XM_011512564.2:c.79+6563G>C	XP_011510866.1:n.79+6563G>C
XM_011512567.1:c.79+6563G>C	XP_011510869.1:n.79+6563G>C
XM_017005923.1:c.79+6563G>C	XP_016861412.1:n.79+6563G>C
XM_017005925.1:c.79+6563G>C	XP_016861414.1:n.79+6563G>C
XM_017005927.1:c.79+6563G>C	XP_016861416.1:n.79+6563G>C