Canonical Allele Identifier: CA374115201

Gene: PTCH1

Linked Data

• dbSNP Id: rs2118021731
• MyVariant Identifiers: chr9:g.98231041T>A (hg19) ; chr9:g.95468759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95468759T>A , CM000671.2:g.95468759T>A	GRCh38
NC_000009.11:g.98231041T>A , CM000671.1:g.98231041T>A	GRCh37
NC_000009.10:g.97270862T>A	NCBI36
NG_007664.1:g.53207A>T , LRG_515:g.53207A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.2044A>T	ENSP00000518556.1:p.Lys682Ter
ENST00000437951.6:c.2239A>T MANE Plus Clinical	ENSP00000389744.2:p.Lys747Ter
ENST00000690194.1:c.*550A>T	ENSP00000509379.1:n.*550A>T
ENST00000692981.1:c.1789A>T	ENSP00000510238.1:p.Lys597Ter
ENST00000331920.11:c.2242A>T MANE Select	ENSP00000332353.6:p.Lys748Ter
ENST00000331920.10:c.2242A>T	ENSP00000332353.6:p.Lys748Ter
ENST00000375274.6:c.2239A>T	ENSP00000364423.2:p.Lys747Ter
ENST00000375290.6:c.2011A>T	ENSP00000364439.2:n.2011A>T
ENST00000418258.5:c.1789A>T	ENSP00000396135.1:p.Lys597Ter
ENST00000421141.5:c.1789A>T	ENSP00000399981.1:p.Lys597Ter
ENST00000429896.6:c.1789A>T	ENSP00000414823.2:p.Lys597Ter
ENST00000430669.6:c.2044A>T	ENSP00000410287.2:p.Lys682Ter
ENST00000437951.5:c.2044A>T	ENSP00000389744.1:p.Lys682Ter
ENST00000549678.1:n.431A>T
NM_000264.3:c.2242A>T , LRG_515t1:c.2242A>T	NP_000255.2:p.Lys748Ter
NM_001083602.1:c.2044A>T , LRG_515t2:c.2044A>T	NP_001077071.1:p.Lys682Ter
NM_001083603.1:c.2239A>T	NP_001077072.1:p.Lys747Ter
NM_001083604.1:c.1789A>T	NP_001077073.1:p.Lys597Ter
NM_001083605.1:c.1789A>T	NP_001077074.1:p.Lys597Ter
NM_001083606.1:c.1789A>T	NP_001077075.1:p.Lys597Ter
NM_001083607.1:c.1789A>T	NP_001077076.1:p.Lys597Ter
NR_038982.1:n.697T>A
XM_005252102.2:c.1789A>T	XP_005252159.1:p.Lys597Ter
XM_011518868.1:c.2086A>T	XP_011517170.1:p.Lys696Ter
XM_011518869.1:c.1789A>T	XP_011517171.1:p.Lys597Ter
XM_011518870.1:c.1789A>T	XP_011517172.1:p.Lys597Ter
XM_011518871.1:c.1789A>T	XP_011517173.1:p.Lys597Ter
XM_011518872.1:c.1789A>T	XP_011517174.1:p.Lys597Ter
XM_011518873.1:c.1402A>T	XP_011517175.1:p.Lys468Ter
XM_011518874.1:c.2242A>T	XP_011517176.1:p.Lys748Ter
NM_000264.4:c.2242A>T	NP_000255.2:p.Lys748Ter
NM_001083602.2:c.2044A>T	NP_001077071.1:p.Lys682Ter
NM_001083603.2:c.2239A>T	NP_001077072.1:p.Lys747Ter
NM_001083604.2:c.1789A>T	NP_001077073.1:p.Lys597Ter
NM_001083605.2:c.1789A>T	NP_001077074.1:p.Lys597Ter
NM_001083606.2:c.1789A>T	NP_001077075.1:p.Lys597Ter
NM_001083607.2:c.1789A>T	NP_001077076.1:p.Lys597Ter
NM_001354918.1:c.2086A>T	NP_001341847.1:p.Lys696Ter
NR_149061.1:n.2430A>T
NM_000264.5:c.2242A>T MANE Select	NP_000255.2:p.Lys748Ter
NM_001083606.3:c.1789A>T	NP_001077075.1:p.Lys597Ter
NM_001354918.2:c.2086A>T	NP_001341847.1:p.Lys696Ter
NR_149061.2:n.3147A>T
NM_001083602.3:c.2044A>T	NP_001077071.1:p.Lys682Ter
NM_001083603.3:c.2239A>T MANE Plus Clinical	NP_001077072.1:p.Lys747Ter
NM_001083604.3:c.1789A>T	NP_001077073.1:p.Lys597Ter
NM_001083605.3:c.1789A>T	NP_001077074.1:p.Lys597Ter
NM_001083607.3:c.1789A>T	NP_001077076.1:p.Lys597Ter