Canonical Allele Identifier: CA2676126

Gene: PLCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155482672G>A , CM000665.2:g.155482672G>A	GRCh38
NC_000003.11:g.155200461G>A , CM000665.1:g.155200461G>A	GRCh37
NC_000003.10:g.156683155G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014996.4:c.3354C>T MANE Select	NP_055811.2:p.Ser1118=
ENST00000460012.7:c.3354C>T MANE Select	ENSP00000417502.2:p.Ser1118=
NM_001130960.1:c.3378C>T	NP_001124432.1:p.Ser1126=
NM_001130960.2:c.3378C>T	NP_001124432.1:p.Ser1126=
NM_001130961.1:c.*397C>T	NP_001124433.1:n.*397C>T
NM_001130961.2:c.*397C>T	NP_001124433.1:n.*397C>T
NM_001349250.1:c.*394C>T	NP_001336179.1:n.*394C>T
NM_001349250.2:c.*394C>T	NP_001336179.1:n.*394C>T
NM_001349251.1:c.3351C>T	NP_001336180.1:p.Ser1117=
NM_001349251.2:c.3351C>T	NP_001336180.1:p.Ser1117=
NM_001349252.1:c.*394C>T	NP_001336181.1:n.*394C>T
NM_001349252.2:c.*394C>T	NP_001336181.1:n.*394C>T
NM_014996.2:c.3264C>T	NP_055811.1:p.Ser1088=
NM_014996.3:c.3354C>T	NP_055811.2:p.Ser1118=
ENST00000334686.6:c.3264C>T	ENSP00000335469.6:p.Ser1088=
ENST00000340059.11:c.3378C>T	ENSP00000345988.7:p.Ser1126=
ENST00000447496.6:c.3406C>T	ENSP00000402759.2:n.3406C>T
ENST00000460012.5:c.3264C>T	ENSP00000417502.1:p.Ser1088=
ENST00000494598.5:c.2938+2684C>T	ENSP00000419100.1:n.2938+2684C>T
XM_005247238.1:c.3414C>T	XP_005247295.1:p.Ser1138=
XM_005247239.1:c.3318C>T	XP_005247296.1:p.Ser1106=
XM_011512560.1:c.3414C>T	XP_011510862.1:p.Ser1138=
XM_011512560.3:c.3414C>T	XP_011510862.1:p.Ser1138=
XM_011512561.1:c.3414C>T	XP_011510863.1:p.Ser1138=
XM_011512561.2:c.3414C>T	XP_011510863.1:p.Ser1138=
XM_011512562.1:c.3414C>T	XP_011510864.1:p.Ser1138=
XM_011512562.3:c.3414C>T	XP_011510864.1:p.Ser1138=
XM_011512563.1:c.3414C>T	XP_011510865.1:p.Ser1138=
XM_011512564.1:c.3354C>T	XP_011510866.1:p.Ser1118=
XM_011512564.2:c.3354C>T	XP_011510866.1:p.Ser1118=
XM_011512565.1:c.3324C>T	XP_011510867.1:p.Ser1108=
XM_011512565.2:c.3324C>T	XP_011510867.1:p.Ser1108=
XM_011512566.1:c.3324C>T	XP_011510868.1:p.Ser1108=
XM_011512566.2:c.3324C>T	XP_011510868.1:p.Ser1108=
XM_011512567.1:c.*397C>T	XP_011510869.1:n.*397C>T
XM_017005923.1:c.3411C>T	XP_016861412.1:p.Ser1137=
XM_017005925.1:c.3342C>T	XP_016861414.1:p.Ser1114=
XM_017005926.1:c.3324C>T	XP_016861415.1:p.Ser1108=
XM_017005927.1:c.3034+2684C>T	XP_016861416.1:n.3034+2684C>T