Canonical Allele Identifier: CA161694

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 135099
• ClinVar RCV Id: RCV000167898 ; RCV000121891 ; RCV000575313 ; RCV001085114 ; RCV004551190
• dbSNP Id: rs147025073
• ExAC: 9:98215833 C / T
• gnomAD v2: 9-98215833-C-T
• gnomAD v3: 9-95453551-C-T
• gnomAD v4: 9-95453551-C-T
• MyVariant Identifiers: chr9:g.98215833C>T (hg19) ; chr9:g.95453551C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453551C>T , CM000671.2:g.95453551C>T	GRCh38
NC_000009.11:g.98215833C>T , CM000671.1:g.98215833C>T	GRCh37
NC_000009.10:g.97255654C>T	NCBI36
NG_007664.1:g.68415G>A , LRG_515:g.68415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3178G>A	ENSP00000518556.1:p.Val1060Ile
ENST00000437951.6:c.3373G>A MANE Plus Clinical	ENSP00000389744.2:p.Val1125Ile
ENST00000690194.1:c.*1684G>A	ENSP00000509379.1:n.*1684G>A
ENST00000692981.1:c.2923G>A	ENSP00000510238.1:p.Val975Ile
ENST00000693534.1:n.707G>A
ENST00000331920.11:c.3376G>A MANE Select	ENSP00000332353.6:p.Val1126Ile
ENST00000331920.10:c.3376G>A	ENSP00000332353.6:p.Val1126Ile
ENST00000375274.6:c.3373G>A	ENSP00000364423.2:p.Val1125Ile
ENST00000375290.6:c.3145G>A	ENSP00000364439.2:n.3145G>A
ENST00000418258.5:c.2923G>A	ENSP00000396135.1:p.Val975Ile
ENST00000421141.5:c.2923G>A	ENSP00000399981.1:p.Val975Ile
ENST00000429896.6:c.2923G>A	ENSP00000414823.2:p.Val975Ile
ENST00000430669.6:c.3178G>A	ENSP00000410287.2:p.Val1060Ile
ENST00000437951.5:c.3178G>A	ENSP00000389744.1:p.Val1060Ile
NM_000264.3:c.3376G>A , LRG_515t1:c.3376G>A	NP_000255.2:p.Val1126Ile
NM_001083602.1:c.3178G>A , LRG_515t2:c.3178G>A	NP_001077071.1:p.Val1060Ile
NM_001083603.1:c.3373G>A	NP_001077072.1:p.Val1125Ile
NM_001083604.1:c.2923G>A	NP_001077073.1:p.Val975Ile
NM_001083605.1:c.2923G>A	NP_001077074.1:p.Val975Ile
NM_001083606.1:c.2923G>A	NP_001077075.1:p.Val975Ile
NM_001083607.1:c.2923G>A	NP_001077076.1:p.Val975Ile
XM_005252102.2:c.2923G>A	XP_005252159.1:p.Val975Ile
XM_011518868.1:c.3220G>A	XP_011517170.1:p.Val1074Ile
XM_011518869.1:c.2923G>A	XP_011517171.1:p.Val975Ile
XM_011518870.1:c.2923G>A	XP_011517172.1:p.Val975Ile
XM_011518871.1:c.2923G>A	XP_011517173.1:p.Val975Ile
XM_011518872.1:c.2923G>A	XP_011517174.1:p.Val975Ile
XM_011518873.1:c.2536G>A	XP_011517175.1:p.Val846Ile
XM_011518874.1:c.3376G>A	XP_011517176.1:p.Val1126Ile
NM_000264.4:c.3376G>A	NP_000255.2:p.Val1126Ile
NM_001083602.2:c.3178G>A	NP_001077071.1:p.Val1060Ile
NM_001083603.2:c.3373G>A	NP_001077072.1:p.Val1125Ile
NM_001083604.2:c.2923G>A	NP_001077073.1:p.Val975Ile
NM_001083605.2:c.2923G>A	NP_001077074.1:p.Val975Ile
NM_001083606.2:c.2923G>A	NP_001077075.1:p.Val975Ile
NM_001083607.2:c.2923G>A	NP_001077076.1:p.Val975Ile
NM_001354918.1:c.3220G>A	NP_001341847.1:p.Val1074Ile
NR_149061.1:n.3398G>A
NM_000264.5:c.3376G>A MANE Select	NP_000255.2:p.Val1126Ile
NM_001083606.3:c.2923G>A	NP_001077075.1:p.Val975Ile
NM_001354918.2:c.3220G>A	NP_001341847.1:p.Val1074Ile
NR_149061.2:n.4115G>A
NM_001083602.3:c.3178G>A	NP_001077071.1:p.Val1060Ile
NM_001083603.3:c.3373G>A MANE Plus Clinical	NP_001077072.1:p.Val1125Ile
NM_001083604.3:c.2923G>A	NP_001077073.1:p.Val975Ile
NM_001083605.3:c.2923G>A	NP_001077074.1:p.Val975Ile
NM_001083607.3:c.2923G>A	NP_001077076.1:p.Val975Ile