Canonical Allele Identifier: CA374111685

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 2452343
• ClinVar RCV Id: RCV003172437
• gnomAD v4: 9-95453495-C-A
• MyVariant Identifiers: chr9:g.98215777C>A (hg19) ; chr9:g.95453495C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453495C>A , CM000671.2:g.95453495C>A	GRCh38
NC_000009.11:g.98215777C>A , CM000671.1:g.98215777C>A	GRCh37
NC_000009.10:g.97255598C>A	NCBI36
NG_007664.1:g.68471G>T , LRG_515:g.68471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3234G>T	ENSP00000518556.1:p.Glu1078Asp
ENST00000437951.6:c.3429G>T MANE Plus Clinical	ENSP00000389744.2:p.Glu1143Asp
ENST00000690194.1:c.*1740G>T	ENSP00000509379.1:n.*1740G>T
ENST00000692981.1:c.2979G>T	ENSP00000510238.1:p.Glu993Asp
ENST00000693534.1:n.763G>T
ENST00000331920.11:c.3432G>T MANE Select	ENSP00000332353.6:p.Glu1144Asp
ENST00000331920.10:c.3432G>T	ENSP00000332353.6:p.Glu1144Asp
ENST00000375274.6:c.3429G>T	ENSP00000364423.2:p.Glu1143Asp
ENST00000375290.6:c.3201G>T	ENSP00000364439.2:n.3201G>T
ENST00000418258.5:c.2979G>T	ENSP00000396135.1:p.Glu993Asp
ENST00000421141.5:c.2979G>T	ENSP00000399981.1:p.Glu993Asp
ENST00000429896.6:c.2979G>T	ENSP00000414823.2:p.Glu993Asp
ENST00000430669.6:c.3234G>T	ENSP00000410287.2:p.Glu1078Asp
ENST00000437951.5:c.3234G>T	ENSP00000389744.1:p.Glu1078Asp
NM_000264.3:c.3432G>T , LRG_515t1:c.3432G>T	NP_000255.2:p.Glu1144Asp
NM_001083602.1:c.3234G>T , LRG_515t2:c.3234G>T	NP_001077071.1:p.Glu1078Asp
NM_001083603.1:c.3429G>T	NP_001077072.1:p.Glu1143Asp
NM_001083604.1:c.2979G>T	NP_001077073.1:p.Glu993Asp
NM_001083605.1:c.2979G>T	NP_001077074.1:p.Glu993Asp
NM_001083606.1:c.2979G>T	NP_001077075.1:p.Glu993Asp
NM_001083607.1:c.2979G>T	NP_001077076.1:p.Glu993Asp
XM_005252102.2:c.2979G>T	XP_005252159.1:p.Glu993Asp
XM_011518868.1:c.3276G>T	XP_011517170.1:p.Glu1092Asp
XM_011518869.1:c.2979G>T	XP_011517171.1:p.Glu993Asp
XM_011518870.1:c.2979G>T	XP_011517172.1:p.Glu993Asp
XM_011518871.1:c.2979G>T	XP_011517173.1:p.Glu993Asp
XM_011518872.1:c.2979G>T	XP_011517174.1:p.Glu993Asp
XM_011518873.1:c.2592G>T	XP_011517175.1:p.Glu864Asp
XM_011518874.1:c.3432G>T	XP_011517176.1:p.Glu1144Asp
NM_000264.4:c.3432G>T	NP_000255.2:p.Glu1144Asp
NM_001083602.2:c.3234G>T	NP_001077071.1:p.Glu1078Asp
NM_001083603.2:c.3429G>T	NP_001077072.1:p.Glu1143Asp
NM_001083604.2:c.2979G>T	NP_001077073.1:p.Glu993Asp
NM_001083605.2:c.2979G>T	NP_001077074.1:p.Glu993Asp
NM_001083606.2:c.2979G>T	NP_001077075.1:p.Glu993Asp
NM_001083607.2:c.2979G>T	NP_001077076.1:p.Glu993Asp
NM_001354918.1:c.3276G>T	NP_001341847.1:p.Glu1092Asp
NR_149061.1:n.3454G>T
NM_000264.5:c.3432G>T MANE Select	NP_000255.2:p.Glu1144Asp
NM_001083606.3:c.2979G>T	NP_001077075.1:p.Glu993Asp
NM_001354918.2:c.3276G>T	NP_001341847.1:p.Glu1092Asp
NR_149061.2:n.4171G>T
NM_001083602.3:c.3234G>T	NP_001077071.1:p.Glu1078Asp
NM_001083603.3:c.3429G>T MANE Plus Clinical	NP_001077072.1:p.Glu1143Asp
NM_001083604.3:c.2979G>T	NP_001077073.1:p.Glu993Asp
NM_001083605.3:c.2979G>T	NP_001077074.1:p.Glu993Asp
NM_001083607.3:c.2979G>T	NP_001077076.1:p.Glu993Asp