Canonical Allele Identifier: CA1865649800

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479122G= , CM000671.2:g.95479122G=	GRCh38
NC_000009.11:g.98241404G= , CM000671.1:g.98241404G=	GRCh37
NC_000009.10:g.97281225G=	NCBI36
NG_007664.1:g.42844C= , LRG_515:g.42844C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.895C=	ENSP00000518556.1:p.Gln299=
ENST00000437951.6:c.1090C= MANE Plus Clinical	ENSP00000389744.2:p.Gln364=
ENST00000690194.1:c.640C=	ENSP00000509379.1:p.Gln214=
ENST00000692981.1:c.640C=	ENSP00000510238.1:p.Gln214=
ENST00000331920.11:c.1093C= MANE Select	ENSP00000332353.6:p.Gln365=
ENST00000331920.10:c.1093C=	ENSP00000332353.6:p.Gln365=
ENST00000375271.4:c.244C=	ENSP00000364420.4:p.Gln82=
ENST00000375274.6:c.1090C=	ENSP00000364423.2:p.Gln364=
ENST00000375290.6:c.730C=	ENSP00000364439.2:p.Gln244=
ENST00000418258.5:c.640C=	ENSP00000396135.1:p.Gln214=
ENST00000421141.5:c.640C=	ENSP00000399981.1:p.Gln214=
ENST00000429896.6:c.640C=	ENSP00000414823.2:p.Gln214=
ENST00000430669.6:c.895C=	ENSP00000410287.2:p.Gln299=
ENST00000437951.5:c.895C=	ENSP00000389744.1:p.Gln299=
NM_000264.3:c.1093C= , LRG_515t1:c.1093C=	NP_000255.2:p.Gln365=
NM_001083602.1:c.895C= , LRG_515t2:c.895C=	NP_001077071.1:p.Gln299=
NM_001083603.1:c.1090C=	NP_001077072.1:p.Gln364=
NM_001083604.1:c.640C=	NP_001077073.1:p.Gln214=
NM_001083605.1:c.640C=	NP_001077074.1:p.Gln214=
NM_001083606.1:c.640C=	NP_001077075.1:p.Gln214=
NM_001083607.1:c.640C=	NP_001077076.1:p.Gln214=
XM_005252102.2:c.640C=	XP_005252159.1:p.Gln214=
XM_011518868.1:c.1093C=	XP_011517170.1:p.Gln365=
XM_011518869.1:c.640C=	XP_011517171.1:p.Gln214=
XM_011518870.1:c.640C=	XP_011517172.1:p.Gln214=
XM_011518871.1:c.640C=	XP_011517173.1:p.Gln214=
XM_011518872.1:c.640C=	XP_011517174.1:p.Gln214=
XM_011518873.1:c.253C=	XP_011517175.1:p.Gln85=
XM_011518874.1:c.1093C=	XP_011517176.1:p.Gln365=
NM_000264.4:c.1093C=	NP_000255.2:p.Gln365=
NM_001083602.2:c.895C=	NP_001077071.1:p.Gln299=
NM_001083603.2:c.1090C=	NP_001077072.1:p.Gln364=
NM_001083604.2:c.640C=	NP_001077073.1:p.Gln214=
NM_001083605.2:c.640C=	NP_001077074.1:p.Gln214=
NM_001083606.2:c.640C=	NP_001077075.1:p.Gln214=
NM_001083607.2:c.640C=	NP_001077076.1:p.Gln214=
NM_001354918.1:c.1093C=	NP_001341847.1:p.Gln365=
NR_149061.1:n.1281C=
NM_000264.5:c.1093C= MANE Select	NP_000255.2:p.Gln365=
NM_001083606.3:c.640C=	NP_001077075.1:p.Gln214=
NM_001354918.2:c.1093C=	NP_001341847.1:p.Gln365=
NR_149061.2:n.1998C=
NM_001083602.3:c.895C=	NP_001077071.1:p.Gln299=
NM_001083603.3:c.1090C= MANE Plus Clinical	NP_001077072.1:p.Gln364=
NM_001083604.3:c.640C=	NP_001077073.1:p.Gln214=
NM_001083605.3:c.640C=	NP_001077074.1:p.Gln214=
NM_001083607.3:c.640C=	NP_001077076.1:p.Gln214=