Canonical Allele Identifier: CA658797234

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 524496
• ClinVar RCV Id: RCV000628328
• dbSNP Id: rs1554699216
• MyVariant Identifiers: chr9:g.98241362dup (hg19) ; chr9:g.95479080dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479080dup , CM000671.2:g.95479080dup	GRCh38
NC_000009.11:g.98241362dup , CM000671.1:g.98241362dup	GRCh37
NC_000009.10:g.97281183dup	NCBI36
NG_007664.1:g.42886dup , LRG_515:g.42886dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.937dup	ENSP00000518556.1:p.Tyr313LeufsTer?
ENST00000437951.6:c.1132dup MANE Plus Clinical	ENSP00000389744.2:p.Tyr378LeufsTer?
ENST00000690194.1:c.682dup	ENSP00000509379.1:p.Tyr228LeufsTer?
ENST00000692981.1:c.682dup	ENSP00000510238.1:p.Tyr228LeufsTer?
ENST00000331920.11:c.1135dup MANE Select	ENSP00000332353.6:p.Tyr379LeufsTer?
ENST00000331920.10:c.1135dup	ENSP00000332353.6:p.Tyr379LeufsTer?
ENST00000375271.4:c.286dup	ENSP00000364420.4:p.Tyr96LeufsTer?
ENST00000375274.6:c.1132dup	ENSP00000364423.2:p.Tyr378LeufsTer?
ENST00000375290.6:c.772dup	ENSP00000364439.2:p.Tyr258LeufsTer?
ENST00000418258.5:c.682dup	ENSP00000396135.1:p.Tyr228LeufsTer?
ENST00000421141.5:c.682dup	ENSP00000399981.1:p.Tyr228LeufsTer?
ENST00000429896.6:c.682dup	ENSP00000414823.2:p.Tyr228LeufsTer?
ENST00000430669.6:c.937dup	ENSP00000410287.2:p.Tyr313LeufsTer?
ENST00000437951.5:c.937dup	ENSP00000389744.1:p.Tyr313LeufsTer?
NM_000264.3:c.1135dup , LRG_515t1:c.1135dup	NP_000255.2:p.Tyr379LeufsTer?
NM_001083602.1:c.937dup , LRG_515t2:c.937dup	NP_001077071.1:p.Tyr313LeufsTer?
NM_001083603.1:c.1132dup	NP_001077072.1:p.Tyr378LeufsTer?
NM_001083604.1:c.682dup	NP_001077073.1:p.Tyr228LeufsTer?
NM_001083605.1:c.682dup	NP_001077074.1:p.Tyr228LeufsTer?
NM_001083606.1:c.682dup	NP_001077075.1:p.Tyr228LeufsTer?
NM_001083607.1:c.682dup	NP_001077076.1:p.Tyr228LeufsTer?
XM_005252102.2:c.682dup	XP_005252159.1:p.Tyr228LeufsTer?
XM_011518868.1:c.1135dup	XP_011517170.1:p.Tyr379LeufsTer?
XM_011518869.1:c.682dup	XP_011517171.1:p.Tyr228LeufsTer?
XM_011518870.1:c.682dup	XP_011517172.1:p.Tyr228LeufsTer?
XM_011518871.1:c.682dup	XP_011517173.1:p.Tyr228LeufsTer?
XM_011518872.1:c.682dup	XP_011517174.1:p.Tyr228LeufsTer?
XM_011518873.1:c.295dup	XP_011517175.1:p.Tyr99LeufsTer?
XM_011518874.1:c.1135dup	XP_011517176.1:p.Tyr379LeufsTer?
NM_000264.4:c.1135dup	NP_000255.2:p.Tyr379LeufsTer?
NM_001083602.2:c.937dup	NP_001077071.1:p.Tyr313LeufsTer?
NM_001083603.2:c.1132dup	NP_001077072.1:p.Tyr378LeufsTer?
NM_001083604.2:c.682dup	NP_001077073.1:p.Tyr228LeufsTer?
NM_001083605.2:c.682dup	NP_001077074.1:p.Tyr228LeufsTer?
NM_001083606.2:c.682dup	NP_001077075.1:p.Tyr228LeufsTer?
NM_001083607.2:c.682dup	NP_001077076.1:p.Tyr228LeufsTer?
NM_001354918.1:c.1135dup	NP_001341847.1:p.Tyr379LeufsTer?
NR_149061.1:n.1323dup
NM_000264.5:c.1135dup MANE Select	NP_000255.2:p.Tyr379LeufsTer?
NM_001083606.3:c.682dup	NP_001077075.1:p.Tyr228LeufsTer?
NM_001354918.2:c.1135dup	NP_001341847.1:p.Tyr379LeufsTer?
NR_149061.2:n.2040dup
NM_001083602.3:c.937dup	NP_001077071.1:p.Tyr313LeufsTer?
NM_001083603.3:c.1132dup MANE Plus Clinical	NP_001077072.1:p.Tyr378LeufsTer?
NM_001083604.3:c.682dup	NP_001077073.1:p.Tyr228LeufsTer?
NM_001083605.3:c.682dup	NP_001077074.1:p.Tyr228LeufsTer?
NM_001083607.3:c.682dup	NP_001077076.1:p.Tyr228LeufsTer?