Canonical Allele Identifier: CA915947084

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 826008
• ClinVar RCV Id: RCV001024604 ; RCV001071535
• dbSNP Id: rs1588614746
• gnomAD v4: 9-95482208-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482208T>C , CM000671.2:g.95482208T>C	GRCh38
NC_000009.11:g.98244490T>C , CM000671.1:g.98244490T>C	GRCh37
NC_000009.10:g.97284311T>C	NCBI36
NG_007664.1:g.39758A>G , LRG_515:g.39758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.387-5A>G	ENSP00000518556.1:n.387-5A>G
ENST00000437951.6:c.582-5A>G MANE Plus Clinical	ENSP00000389744.2:n.582-5A>G
ENST00000690194.1:c.132-5A>G	ENSP00000509379.1:n.132-5A>G
ENST00000692981.1:c.132-5A>G	ENSP00000510238.1:n.132-5A>G
ENST00000331920.11:c.585-5A>G MANE Select	ENSP00000332353.6:n.585-5A>G
ENST00000331920.10:c.585-5A>G	ENSP00000332353.6:n.585-5A>G
ENST00000375274.6:c.582-5A>G	ENSP00000364423.2:n.582-5A>G
ENST00000375290.6:c.384-1620A>G	ENSP00000364439.2:n.384-1620A>G
ENST00000418258.5:c.132-5A>G	ENSP00000396135.1:n.132-5A>G
ENST00000421141.5:c.132-5A>G	ENSP00000399981.1:n.132-5A>G
ENST00000429896.6:c.132-5A>G	ENSP00000414823.2:n.132-5A>G
ENST00000430669.6:c.387-5A>G	ENSP00000410287.2:n.387-5A>G
ENST00000437951.5:c.387-5A>G	ENSP00000389744.1:n.387-5A>G
ENST00000468211.6:c.387-5A>G	ENSP00000449745.1:n.387-5A>G
ENST00000546820.5:c.132-5A>G	ENSP00000448843.1:n.132-5A>G
ENST00000547672.5:c.132-5A>G	ENSP00000447878.1:n.132-5A>G
ENST00000548379.5:n.238-5A>G
ENST00000548420.1:c.-94-1620A>G	ENSP00000449078.1:n.-94-1620A>G
ENST00000548945.6:n.194-1620A>G
ENST00000550136.1:n.2102A>G
ENST00000550914.6:c.162A>G	ENSP00000450047.1:p.Leu54=
ENST00000551623.1:c.227-5A>G	ENSP00000447242.1:n.227-5A>G
ENST00000551630.1:c.132-5A>G	ENSP00000450131.1:n.132-5A>G
ENST00000551845.5:c.132-5A>G	ENSP00000447008.1:n.132-5A>G
ENST00000553011.5:c.132-5A>G	ENSP00000447797.1:n.132-5A>G
ENST00000553256.5:n.331-5A>G
NM_000264.3:c.585-5A>G , LRG_515t1:c.585-5A>G	NP_000255.2:n.585-5A>G
NM_001083602.1:c.387-5A>G , LRG_515t2:c.387-5A>G	NP_001077071.1:n.387-5A>G
NM_001083603.1:c.582-5A>G	NP_001077072.1:n.582-5A>G
NM_001083604.1:c.132-5A>G	NP_001077073.1:n.132-5A>G
NM_001083605.1:c.132-5A>G	NP_001077074.1:n.132-5A>G
NM_001083606.1:c.132-5A>G	NP_001077075.1:n.132-5A>G
NM_001083607.1:c.132-5A>G	NP_001077076.1:n.132-5A>G
XM_005252102.2:c.132-5A>G	XP_005252159.1:n.132-5A>G
XM_011518868.1:c.585-5A>G	XP_011517170.1:n.585-5A>G
XM_011518869.1:c.132-5A>G	XP_011517171.1:n.132-5A>G
XM_011518870.1:c.132-5A>G	XP_011517172.1:n.132-5A>G
XM_011518871.1:c.132-5A>G	XP_011517173.1:n.132-5A>G
XM_011518872.1:c.132-5A>G	XP_011517174.1:n.132-5A>G
XM_011518873.1:c.-94-1620A>G	XP_011517175.1:n.-94-1620A>G
XM_011518874.1:c.585-5A>G	XP_011517176.1:n.585-5A>G
NM_000264.4:c.585-5A>G	NP_000255.2:n.585-5A>G
NM_001083602.2:c.387-5A>G	NP_001077071.1:n.387-5A>G
NM_001083603.2:c.582-5A>G	NP_001077072.1:n.582-5A>G
NM_001083604.2:c.132-5A>G	NP_001077073.1:n.132-5A>G
NM_001083605.2:c.132-5A>G	NP_001077074.1:n.132-5A>G
NM_001083606.2:c.132-5A>G	NP_001077075.1:n.132-5A>G
NM_001083607.2:c.132-5A>G	NP_001077076.1:n.132-5A>G
NM_001354918.1:c.585-5A>G	NP_001341847.1:n.585-5A>G
NM_001354919.1:c.387-5A>G	NP_001341848.1:n.387-5A>G
NR_149061.1:n.773-5A>G
NM_000264.5:c.585-5A>G MANE Select	NP_000255.2:n.585-5A>G
NM_001083606.3:c.132-5A>G	NP_001077075.1:n.132-5A>G
NM_001354918.2:c.585-5A>G	NP_001341847.1:n.585-5A>G
NR_149061.2:n.1490-5A>G
NM_001083602.3:c.387-5A>G	NP_001077071.1:n.387-5A>G
NM_001083603.3:c.582-5A>G MANE Plus Clinical	NP_001077072.1:n.582-5A>G
NM_001083604.3:c.132-5A>G	NP_001077073.1:n.132-5A>G
NM_001083605.3:c.132-5A>G	NP_001077074.1:n.132-5A>G
NM_001083607.3:c.132-5A>G	NP_001077076.1:n.132-5A>G
NM_001354919.2:c.387-5A>G	NP_001341848.1:n.387-5A>G