Canonical Allele Identifier: CA374119499

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 1017322
• ClinVar RCV Id: RCV001316454 ; RCV002447338
• dbSNP Id: rs1841330687
• gnomAD v4: 9-95479126-C-T
• MyVariant Identifiers: chr9:g.98241408C>T (hg19) ; chr9:g.95479126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479126C>T , CM000671.2:g.95479126C>T	GRCh38
NC_000009.11:g.98241408C>T , CM000671.1:g.98241408C>T	GRCh37
NC_000009.10:g.97281229C>T	NCBI36
NG_007664.1:g.42840G>A , LRG_515:g.42840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.891G>A	ENSP00000518556.1:p.Met297Ile
ENST00000437951.6:c.1086G>A MANE Plus Clinical	ENSP00000389744.2:p.Met362Ile
ENST00000690194.1:c.636G>A	ENSP00000509379.1:p.Met212Ile
ENST00000692981.1:c.636G>A	ENSP00000510238.1:p.Met212Ile
ENST00000331920.11:c.1089G>A MANE Select	ENSP00000332353.6:p.Met363Ile
ENST00000331920.10:c.1089G>A	ENSP00000332353.6:p.Met363Ile
ENST00000375271.4:c.240G>A	ENSP00000364420.4:p.Met80Ile
ENST00000375274.6:c.1086G>A	ENSP00000364423.2:p.Met362Ile
ENST00000375290.6:c.726G>A	ENSP00000364439.2:p.Met242Ile
ENST00000418258.5:c.636G>A	ENSP00000396135.1:p.Met212Ile
ENST00000421141.5:c.636G>A	ENSP00000399981.1:p.Met212Ile
ENST00000429896.6:c.636G>A	ENSP00000414823.2:p.Met212Ile
ENST00000430669.6:c.891G>A	ENSP00000410287.2:p.Met297Ile
ENST00000437951.5:c.891G>A	ENSP00000389744.1:p.Met297Ile
NM_000264.3:c.1089G>A , LRG_515t1:c.1089G>A	NP_000255.2:p.Met363Ile
NM_001083602.1:c.891G>A , LRG_515t2:c.891G>A	NP_001077071.1:p.Met297Ile
NM_001083603.1:c.1086G>A	NP_001077072.1:p.Met362Ile
NM_001083604.1:c.636G>A	NP_001077073.1:p.Met212Ile
NM_001083605.1:c.636G>A	NP_001077074.1:p.Met212Ile
NM_001083606.1:c.636G>A	NP_001077075.1:p.Met212Ile
NM_001083607.1:c.636G>A	NP_001077076.1:p.Met212Ile
XM_005252102.2:c.636G>A	XP_005252159.1:p.Met212Ile
XM_011518868.1:c.1089G>A	XP_011517170.1:p.Met363Ile
XM_011518869.1:c.636G>A	XP_011517171.1:p.Met212Ile
XM_011518870.1:c.636G>A	XP_011517172.1:p.Met212Ile
XM_011518871.1:c.636G>A	XP_011517173.1:p.Met212Ile
XM_011518872.1:c.636G>A	XP_011517174.1:p.Met212Ile
XM_011518873.1:c.249G>A	XP_011517175.1:p.Met83Ile
XM_011518874.1:c.1089G>A	XP_011517176.1:p.Met363Ile
NM_000264.4:c.1089G>A	NP_000255.2:p.Met363Ile
NM_001083602.2:c.891G>A	NP_001077071.1:p.Met297Ile
NM_001083603.2:c.1086G>A	NP_001077072.1:p.Met362Ile
NM_001083604.2:c.636G>A	NP_001077073.1:p.Met212Ile
NM_001083605.2:c.636G>A	NP_001077074.1:p.Met212Ile
NM_001083606.2:c.636G>A	NP_001077075.1:p.Met212Ile
NM_001083607.2:c.636G>A	NP_001077076.1:p.Met212Ile
NM_001354918.1:c.1089G>A	NP_001341847.1:p.Met363Ile
NR_149061.1:n.1277G>A
NM_000264.5:c.1089G>A MANE Select	NP_000255.2:p.Met363Ile
NM_001083606.3:c.636G>A	NP_001077075.1:p.Met212Ile
NM_001354918.2:c.1089G>A	NP_001341847.1:p.Met363Ile
NR_149061.2:n.1994G>A
NM_001083602.3:c.891G>A	NP_001077071.1:p.Met297Ile
NM_001083603.3:c.1086G>A MANE Plus Clinical	NP_001077072.1:p.Met362Ile
NM_001083604.3:c.636G>A	NP_001077073.1:p.Met212Ile
NM_001083605.3:c.636G>A	NP_001077074.1:p.Met212Ile
NM_001083607.3:c.636G>A	NP_001077076.1:p.Met212Ile