Canonical Allele Identifier: CA374118135

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 486220
• ClinVar RCV Id: RCV000566986
• dbSNP Id: rs1064793921
• MyVariant Identifiers: chr9:g.98238443T>G (hg19) ; chr9:g.95476161T>G (hg38)
• PubMed: PMID:24814739

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95476161T>G , CM000671.2:g.95476161T>G	GRCh38
NC_000009.11:g.98238443T>G , CM000671.1:g.98238443T>G	GRCh37
NC_000009.10:g.97278264T>G	NCBI36
NG_007664.1:g.45805A>C , LRG_515:g.45805A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.1405-2A>C	ENSP00000518556.1:n.1405-2A>C
ENST00000437951.6:c.1600-2A>C MANE Plus Clinical	ENSP00000389744.2:n.1600-2A>C
ENST00000690194.1:c.1150-2A>C	ENSP00000509379.1:n.1150-2A>C
ENST00000692981.1:c.1150-2A>C	ENSP00000510238.1:n.1150-2A>C
ENST00000331920.11:c.1603-2A>C MANE Select	ENSP00000332353.6:n.1603-2A>C
ENST00000331920.10:c.1603-2A>C	ENSP00000332353.6:n.1603-2A>C
ENST00000375271.4:c.598-2A>C	ENSP00000364420.4:n.598-2A>C
ENST00000375274.6:c.1600-2A>C	ENSP00000364423.2:n.1600-2A>C
ENST00000375290.6:c.1240-2A>C	ENSP00000364439.2:n.1240-2A>C
ENST00000418258.5:c.1150-2A>C	ENSP00000396135.1:n.1150-2A>C
ENST00000421141.5:c.1150-2A>C	ENSP00000399981.1:n.1150-2A>C
ENST00000429896.6:c.1150-2A>C	ENSP00000414823.2:n.1150-2A>C
ENST00000430669.6:c.1405-2A>C	ENSP00000410287.2:n.1405-2A>C
ENST00000437951.5:c.1405-2A>C	ENSP00000389744.1:n.1405-2A>C
NM_000264.3:c.1603-2A>C , LRG_515t1:c.1603-2A>C	NP_000255.2:n.1603-2A>C
NM_001083602.1:c.1405-2A>C , LRG_515t2:c.1405-2A>C	NP_001077071.1:n.1405-2A>C
NM_001083603.1:c.1600-2A>C	NP_001077072.1:n.1600-2A>C
NM_001083604.1:c.1150-2A>C	NP_001077073.1:n.1150-2A>C
NM_001083605.1:c.1150-2A>C	NP_001077074.1:n.1150-2A>C
NM_001083606.1:c.1150-2A>C	NP_001077075.1:n.1150-2A>C
NM_001083607.1:c.1150-2A>C	NP_001077076.1:n.1150-2A>C
XM_005252102.2:c.1150-2A>C	XP_005252159.1:n.1150-2A>C
XM_011518868.1:c.1447-2A>C	XP_011517170.1:n.1447-2A>C
XM_011518869.1:c.1150-2A>C	XP_011517171.1:n.1150-2A>C
XM_011518870.1:c.1150-2A>C	XP_011517172.1:n.1150-2A>C
XM_011518871.1:c.1150-2A>C	XP_011517173.1:n.1150-2A>C
XM_011518872.1:c.1150-2A>C	XP_011517174.1:n.1150-2A>C
XM_011518873.1:c.763-2A>C	XP_011517175.1:n.763-2A>C
XM_011518874.1:c.1603-2A>C	XP_011517176.1:n.1603-2A>C
NM_000264.4:c.1603-2A>C	NP_000255.2:n.1603-2A>C
NM_001083602.2:c.1405-2A>C	NP_001077071.1:n.1405-2A>C
NM_001083603.2:c.1600-2A>C	NP_001077072.1:n.1600-2A>C
NM_001083604.2:c.1150-2A>C	NP_001077073.1:n.1150-2A>C
NM_001083605.2:c.1150-2A>C	NP_001077074.1:n.1150-2A>C
NM_001083606.2:c.1150-2A>C	NP_001077075.1:n.1150-2A>C
NM_001083607.2:c.1150-2A>C	NP_001077076.1:n.1150-2A>C
NM_001354918.1:c.1447-2A>C	NP_001341847.1:n.1447-2A>C
NR_149061.1:n.1791-2A>C
NM_000264.5:c.1603-2A>C MANE Select	NP_000255.2:n.1603-2A>C
NM_001083606.3:c.1150-2A>C	NP_001077075.1:n.1150-2A>C
NM_001354918.2:c.1447-2A>C	NP_001341847.1:n.1447-2A>C
NR_149061.2:n.2508-2A>C
NM_001083602.3:c.1405-2A>C	NP_001077071.1:n.1405-2A>C
NM_001083603.3:c.1600-2A>C MANE Plus Clinical	NP_001077072.1:n.1600-2A>C
NM_001083604.3:c.1150-2A>C	NP_001077073.1:n.1150-2A>C
NM_001083605.3:c.1150-2A>C	NP_001077074.1:n.1150-2A>C
NM_001083607.3:c.1150-2A>C	NP_001077076.1:n.1150-2A>C