Canonical Allele Identifier: CA374119326

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 644903
• ClinVar RCV Id: RCV000798895
• dbSNP Id: rs1588605485
• COSMIC: COSM17608
• MyVariant Identifiers: chr9:g.98241336C>T (hg19) ; chr9:g.95479054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479054C>T , CM000671.2:g.95479054C>T	GRCh38
NC_000009.11:g.98241336C>T , CM000671.1:g.98241336C>T	GRCh37
NC_000009.10:g.97281157C>T	NCBI36
NG_007664.1:g.42912G>A , LRG_515:g.42912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.963G>A	ENSP00000518556.1:p.Trp321Ter
ENST00000437951.6:c.1158G>A MANE Plus Clinical	ENSP00000389744.2:p.Trp386Ter
ENST00000690194.1:c.708G>A	ENSP00000509379.1:p.Trp236Ter
ENST00000692981.1:c.708G>A	ENSP00000510238.1:p.Trp236Ter
ENST00000331920.11:c.1161G>A MANE Select	ENSP00000332353.6:p.Trp387Ter
ENST00000331920.10:c.1161G>A	ENSP00000332353.6:p.Trp387Ter
ENST00000375271.4:c.312G>A	ENSP00000364420.4:p.Trp104Ter
ENST00000375274.6:c.1158G>A	ENSP00000364423.2:p.Trp386Ter
ENST00000375290.6:c.798G>A	ENSP00000364439.2:p.Trp266Ter
ENST00000418258.5:c.708G>A	ENSP00000396135.1:p.Trp236Ter
ENST00000421141.5:c.708G>A	ENSP00000399981.1:p.Trp236Ter
ENST00000429896.6:c.708G>A	ENSP00000414823.2:p.Trp236Ter
ENST00000430669.6:c.963G>A	ENSP00000410287.2:p.Trp321Ter
ENST00000437951.5:c.963G>A	ENSP00000389744.1:p.Trp321Ter
NM_000264.3:c.1161G>A , LRG_515t1:c.1161G>A	NP_000255.2:p.Trp387Ter
NM_001083602.1:c.963G>A , LRG_515t2:c.963G>A	NP_001077071.1:p.Trp321Ter
NM_001083603.1:c.1158G>A	NP_001077072.1:p.Trp386Ter
NM_001083604.1:c.708G>A	NP_001077073.1:p.Trp236Ter
NM_001083605.1:c.708G>A	NP_001077074.1:p.Trp236Ter
NM_001083606.1:c.708G>A	NP_001077075.1:p.Trp236Ter
NM_001083607.1:c.708G>A	NP_001077076.1:p.Trp236Ter
XM_005252102.2:c.708G>A	XP_005252159.1:p.Trp236Ter
XM_011518868.1:c.1161G>A	XP_011517170.1:p.Trp387Ter
XM_011518869.1:c.708G>A	XP_011517171.1:p.Trp236Ter
XM_011518870.1:c.708G>A	XP_011517172.1:p.Trp236Ter
XM_011518871.1:c.708G>A	XP_011517173.1:p.Trp236Ter
XM_011518872.1:c.708G>A	XP_011517174.1:p.Trp236Ter
XM_011518873.1:c.321G>A	XP_011517175.1:p.Trp107Ter
XM_011518874.1:c.1161G>A	XP_011517176.1:p.Trp387Ter
NM_000264.4:c.1161G>A	NP_000255.2:p.Trp387Ter
NM_001083602.2:c.963G>A	NP_001077071.1:p.Trp321Ter
NM_001083603.2:c.1158G>A	NP_001077072.1:p.Trp386Ter
NM_001083604.2:c.708G>A	NP_001077073.1:p.Trp236Ter
NM_001083605.2:c.708G>A	NP_001077074.1:p.Trp236Ter
NM_001083606.2:c.708G>A	NP_001077075.1:p.Trp236Ter
NM_001083607.2:c.708G>A	NP_001077076.1:p.Trp236Ter
NM_001354918.1:c.1161G>A	NP_001341847.1:p.Trp387Ter
NR_149061.1:n.1349G>A
NM_000264.5:c.1161G>A MANE Select	NP_000255.2:p.Trp387Ter
NM_001083606.3:c.708G>A	NP_001077075.1:p.Trp236Ter
NM_001354918.2:c.1161G>A	NP_001341847.1:p.Trp387Ter
NR_149061.2:n.2066G>A
NM_001083602.3:c.963G>A	NP_001077071.1:p.Trp321Ter
NM_001083603.3:c.1158G>A MANE Plus Clinical	NP_001077072.1:p.Trp386Ter
NM_001083604.3:c.708G>A	NP_001077073.1:p.Trp236Ter
NM_001083605.3:c.708G>A	NP_001077074.1:p.Trp236Ter
NM_001083607.3:c.708G>A	NP_001077076.1:p.Trp236Ter