Canonical Allele Identifier: CA332532

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 135891
• ClinVar RCV Id: RCV000123024 ; RCV000566614 ; RCV000241850 ; RCV001166791 ; RCV003477521
• dbSNP Id: rs200435277
• ExAC: 9:98215774 G / A
• gnomAD v2: 9-98215774-G-A
• gnomAD v3: 9-95453492-G-A
• gnomAD v4: 9-95453492-G-A
• COSMIC: COSM1111433 ; COSM1111434 ; COSM1111436 ; COSM1111437
• MyVariant Identifiers: chr9:g.98215774G>A (hg19) ; chr9:g.95453492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453492G>A , CM000671.2:g.95453492G>A	GRCh38
NC_000009.11:g.98215774G>A , CM000671.1:g.98215774G>A	GRCh37
NC_000009.10:g.97255595G>A	NCBI36
NG_007664.1:g.68474C>T , LRG_515:g.68474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3237C>T	ENSP00000518556.1:p.Phe1079=
ENST00000437951.6:c.3432C>T MANE Plus Clinical	ENSP00000389744.2:p.Phe1144=
ENST00000690194.1:c.*1743C>T	ENSP00000509379.1:n.*1743C>T
ENST00000692981.1:c.2982C>T	ENSP00000510238.1:p.Phe994=
ENST00000693534.1:n.766C>T
ENST00000331920.11:c.3435C>T MANE Select	ENSP00000332353.6:p.Phe1145=
ENST00000331920.10:c.3435C>T	ENSP00000332353.6:p.Phe1145=
ENST00000375274.6:c.3432C>T	ENSP00000364423.2:p.Phe1144=
ENST00000375290.6:c.3204C>T	ENSP00000364439.2:n.3204C>T
ENST00000418258.5:c.2982C>T	ENSP00000396135.1:p.Phe994=
ENST00000421141.5:c.2982C>T	ENSP00000399981.1:p.Phe994=
ENST00000429896.6:c.2982C>T	ENSP00000414823.2:p.Phe994=
ENST00000430669.6:c.3237C>T	ENSP00000410287.2:p.Phe1079=
ENST00000437951.5:c.3237C>T	ENSP00000389744.1:p.Phe1079=
NM_000264.3:c.3435C>T , LRG_515t1:c.3435C>T	NP_000255.2:p.Phe1145=
NM_001083602.1:c.3237C>T , LRG_515t2:c.3237C>T	NP_001077071.1:p.Phe1079=
NM_001083603.1:c.3432C>T	NP_001077072.1:p.Phe1144=
NM_001083604.1:c.2982C>T	NP_001077073.1:p.Phe994=
NM_001083605.1:c.2982C>T	NP_001077074.1:p.Phe994=
NM_001083606.1:c.2982C>T	NP_001077075.1:p.Phe994=
NM_001083607.1:c.2982C>T	NP_001077076.1:p.Phe994=
XM_005252102.2:c.2982C>T	XP_005252159.1:p.Phe994=
XM_011518868.1:c.3279C>T	XP_011517170.1:p.Phe1093=
XM_011518869.1:c.2982C>T	XP_011517171.1:p.Phe994=
XM_011518870.1:c.2982C>T	XP_011517172.1:p.Phe994=
XM_011518871.1:c.2982C>T	XP_011517173.1:p.Phe994=
XM_011518872.1:c.2982C>T	XP_011517174.1:p.Phe994=
XM_011518873.1:c.2595C>T	XP_011517175.1:p.Phe865=
XM_011518874.1:c.3435C>T	XP_011517176.1:p.Phe1145=
NM_000264.4:c.3435C>T	NP_000255.2:p.Phe1145=
NM_001083602.2:c.3237C>T	NP_001077071.1:p.Phe1079=
NM_001083603.2:c.3432C>T	NP_001077072.1:p.Phe1144=
NM_001083604.2:c.2982C>T	NP_001077073.1:p.Phe994=
NM_001083605.2:c.2982C>T	NP_001077074.1:p.Phe994=
NM_001083606.2:c.2982C>T	NP_001077075.1:p.Phe994=
NM_001083607.2:c.2982C>T	NP_001077076.1:p.Phe994=
NM_001354918.1:c.3279C>T	NP_001341847.1:p.Phe1093=
NR_149061.1:n.3457C>T
NM_000264.5:c.3435C>T MANE Select	NP_000255.2:p.Phe1145=
NM_001083606.3:c.2982C>T	NP_001077075.1:p.Phe994=
NM_001354918.2:c.3279C>T	NP_001341847.1:p.Phe1093=
NR_149061.2:n.4174C>T
NM_001083602.3:c.3237C>T	NP_001077071.1:p.Phe1079=
NM_001083603.3:c.3432C>T MANE Plus Clinical	NP_001077072.1:p.Phe1144=
NM_001083604.3:c.2982C>T	NP_001077073.1:p.Phe994=
NM_001083605.3:c.2982C>T	NP_001077074.1:p.Phe994=
NM_001083607.3:c.2982C>T	NP_001077076.1:p.Phe994=