Canonical Allele Identifier: CA275065
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195052
ClinVar RCV Id: RCV000175570
dbSNP Id: rs794727242

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95506458C>A , CM000671.2:g.95506458C>A GRCh38
NC_000009.11:g.98268740C>A , CM000671.1:g.98268740C>A GRCh37
NC_000009.10:g.97308561C>A NCBI36
NG_007664.1:g.15508G>T , LRG_515:g.15508G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.145G>T ENSP00000518556.1:p.Gly49Ter
ENST00000437951.6:c.340G>T MANE Plus Clinical ENSP00000389744.2:p.Gly114Ter
ENST00000331920.11:c.343G>T MANE Select ENSP00000332353.6:p.Gly115Ter
ENST00000331920.10:c.343G>T ENSP00000332353.6:p.Gly115Ter
ENST00000375274.6:c.340G>T ENSP00000364423.2:p.Gly114Ter
ENST00000375290.6:c.142G>T ENSP00000364439.2:p.Gly48Ter
ENST00000418258.5:c.-111G>T ENSP00000396135.1:n.-111G>T
ENST00000421141.5:c.-111G>T ENSP00000399981.1:n.-111G>T
ENST00000429896.6:c.-111G>T ENSP00000414823.2:n.-111G>T
ENST00000430669.6:c.145G>T ENSP00000410287.2:p.Gly49Ter
ENST00000437951.5:c.145G>T ENSP00000389744.1:p.Gly49Ter
ENST00000468211.6:c.145G>T ENSP00000449745.1:p.Gly49Ter
ENST00000546820.5:c.-111G>T ENSP00000448843.1:n.-111G>T
ENST00000547672.5:c.-111G>T ENSP00000447878.1:n.-111G>T
ENST00000548420.1:c.-146G>T ENSP00000449078.1:n.-146G>T
ENST00000548945.6:n.142G>T
ENST00000550914.6:c.-111G>T ENSP00000450047.1:n.-111G>T
ENST00000551425.1:n.190+10011G>T
ENST00000551623.1:c.36+10165G>T ENSP00000447242.1:n.36+10165G>T
ENST00000551630.1:c.-111G>T ENSP00000450131.1:n.-111G>T
ENST00000551845.5:c.-111G>T ENSP00000447008.1:n.-111G>T
ENST00000553011.5:c.-111G>T ENSP00000447797.1:n.-111G>T
NM_000264.3:c.343G>T , LRG_515t1:c.343G>T NP_000255.2:p.Gly115Ter
NM_001083602.1:c.145G>T , LRG_515t2:c.145G>T NP_001077071.1:p.Gly49Ter
NM_001083603.1:c.340G>T NP_001077072.1:p.Gly114Ter
NM_001083604.1:c.-111G>T NP_001077073.1:n.-111G>T
NM_001083605.1:c.-111G>T NP_001077074.1:n.-111G>T
NM_001083606.1:c.-111G>T NP_001077075.1:n.-111G>T
NM_001083607.1:c.-111G>T NP_001077076.1:n.-111G>T
XM_011518868.1:c.343G>T XP_011517170.1:p.Gly115Ter
XM_011518871.1:c.-60+10011G>T XP_011517173.1:n.-60+10011G>T
XM_011518873.1:c.-146G>T XP_011517175.1:n.-146G>T
XM_011518874.1:c.343G>T XP_011517176.1:p.Gly115Ter
NM_000264.4:c.343G>T NP_000255.2:p.Gly115Ter
NM_001083602.2:c.145G>T NP_001077071.1:p.Gly49Ter
NM_001083603.2:c.340G>T NP_001077072.1:p.Gly114Ter
NM_001083604.2:c.-111G>T NP_001077073.1:n.-111G>T
NM_001083605.2:c.-111G>T NP_001077074.1:n.-111G>T
NM_001083606.2:c.-111G>T NP_001077075.1:n.-111G>T
NM_001083607.2:c.-111G>T NP_001077076.1:n.-111G>T
NM_001354918.1:c.343G>T NP_001341847.1:p.Gly115Ter
NM_001354919.1:c.145G>T NP_001341848.1:p.Gly49Ter
NR_149061.1:n.531G>T
NM_000264.5:c.343G>T MANE Select NP_000255.2:p.Gly115Ter
NM_001083606.3:c.-111G>T NP_001077075.1:n.-111G>T
NM_001354918.2:c.343G>T NP_001341847.1:p.Gly115Ter
NR_149061.2:n.1248G>T
NM_001083602.3:c.145G>T NP_001077071.1:p.Gly49Ter
NM_001083603.3:c.340G>T MANE Plus Clinical NP_001077072.1:p.Gly114Ter
NM_001083604.3:c.-111G>T NP_001077073.1:n.-111G>T
NM_001083605.3:c.-111G>T NP_001077074.1:n.-111G>T
NM_001083607.3:c.-111G>T NP_001077076.1:n.-111G>T
NM_001354919.2:c.145G>T NP_001341848.1:p.Gly49Ter