Canonical Allele Identifier: CA338895
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216059
ClinVar RCV Id: RCV000199837
dbSNP Id: rs863224487
COSMIC: COSM17455
MyVariant Identifiers: chr9:g.98244311A>T (hg19) chr9:g.95482029A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95482029A>T , CM000671.2:g.95482029A>T GRCh38
NC_000009.11:g.98244311A>T , CM000671.1:g.98244311A>T GRCh37
NC_000009.10:g.97284132A>T NCBI36
NG_007664.1:g.39937T>A , LRG_515:g.39937T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.468T>A ENSP00000518556.1:p.Tyr156Ter
ENST00000437951.6:c.663T>A MANE Plus Clinical ENSP00000389744.2:p.Tyr221Ter
ENST00000690194.1:c.213T>A ENSP00000509379.1:p.Tyr71Ter
ENST00000692981.1:c.213T>A ENSP00000510238.1:p.Tyr71Ter
ENST00000331920.11:c.666T>A MANE Select ENSP00000332353.6:p.Tyr222Ter
ENST00000331920.10:c.666T>A ENSP00000332353.6:p.Tyr222Ter
ENST00000375274.6:c.663T>A ENSP00000364423.2:p.Tyr221Ter
ENST00000375290.6:c.384-1441T>A ENSP00000364439.2:n.384-1441T>A
ENST00000418258.5:c.213T>A ENSP00000396135.1:p.Tyr71Ter
ENST00000421141.5:c.213T>A ENSP00000399981.1:p.Tyr71Ter
ENST00000429896.6:c.213T>A ENSP00000414823.2:p.Tyr71Ter
ENST00000430669.6:c.468T>A ENSP00000410287.2:p.Tyr156Ter
ENST00000437951.5:c.468T>A ENSP00000389744.1:p.Tyr156Ter
ENST00000468211.6:c.468T>A ENSP00000449745.1:p.Tyr156Ter
ENST00000546820.5:c.213T>A ENSP00000448843.1:p.Tyr71Ter
ENST00000547672.5:c.213T>A ENSP00000447878.1:p.Tyr71Ter
ENST00000548379.5:n.319T>A
ENST00000548420.1:c.-94-1441T>A ENSP00000449078.1:n.-94-1441T>A
ENST00000548945.6:n.194-1441T>A
ENST00000550136.1:n.2188T>A
ENST00000550914.6:c.*8T>A ENSP00000450047.1:n.*8T>A
ENST00000551623.1:c.308T>A ENSP00000447242.1:n.308T>A
ENST00000551630.1:c.213T>A ENSP00000450131.1:p.Tyr71Ter
ENST00000551845.5:c.213T>A ENSP00000447008.1:p.Tyr71Ter
ENST00000553011.5:c.213T>A ENSP00000447797.1:p.Tyr71Ter
ENST00000553256.5:n.412T>A
NM_000264.3:c.666T>A , LRG_515t1:c.666T>A NP_000255.2:p.Tyr222Ter
NM_001083602.1:c.468T>A , LRG_515t2:c.468T>A NP_001077071.1:p.Tyr156Ter
NM_001083603.1:c.663T>A NP_001077072.1:p.Tyr221Ter
NM_001083604.1:c.213T>A NP_001077073.1:p.Tyr71Ter
NM_001083605.1:c.213T>A NP_001077074.1:p.Tyr71Ter
NM_001083606.1:c.213T>A NP_001077075.1:p.Tyr71Ter
NM_001083607.1:c.213T>A NP_001077076.1:p.Tyr71Ter
XM_005252102.2:c.213T>A XP_005252159.1:p.Tyr71Ter
XM_011518868.1:c.666T>A XP_011517170.1:p.Tyr222Ter
XM_011518869.1:c.213T>A XP_011517171.1:p.Tyr71Ter
XM_011518870.1:c.213T>A XP_011517172.1:p.Tyr71Ter
XM_011518871.1:c.213T>A XP_011517173.1:p.Tyr71Ter
XM_011518872.1:c.213T>A XP_011517174.1:p.Tyr71Ter
XM_011518873.1:c.-94-1441T>A XP_011517175.1:n.-94-1441T>A
XM_011518874.1:c.666T>A XP_011517176.1:p.Tyr222Ter
NM_000264.4:c.666T>A NP_000255.2:p.Tyr222Ter
NM_001083602.2:c.468T>A NP_001077071.1:p.Tyr156Ter
NM_001083603.2:c.663T>A NP_001077072.1:p.Tyr221Ter
NM_001083604.2:c.213T>A NP_001077073.1:p.Tyr71Ter
NM_001083605.2:c.213T>A NP_001077074.1:p.Tyr71Ter
NM_001083606.2:c.213T>A NP_001077075.1:p.Tyr71Ter
NM_001083607.2:c.213T>A NP_001077076.1:p.Tyr71Ter
NM_001354918.1:c.666T>A NP_001341847.1:p.Tyr222Ter
NM_001354919.1:c.468T>A NP_001341848.1:p.Tyr156Ter
NR_149061.1:n.854T>A
NM_000264.5:c.666T>A MANE Select NP_000255.2:p.Tyr222Ter
NM_001083606.3:c.213T>A NP_001077075.1:p.Tyr71Ter
NM_001354918.2:c.666T>A NP_001341847.1:p.Tyr222Ter
NR_149061.2:n.1571T>A
NM_001083602.3:c.468T>A NP_001077071.1:p.Tyr156Ter
NM_001083603.3:c.663T>A MANE Plus Clinical NP_001077072.1:p.Tyr221Ter
NM_001083604.3:c.213T>A NP_001077073.1:p.Tyr71Ter
NM_001083605.3:c.213T>A NP_001077074.1:p.Tyr71Ter
NM_001083607.3:c.213T>A NP_001077076.1:p.Tyr71Ter
NM_001354919.2:c.468T>A NP_001341848.1:p.Tyr156Ter
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