Canonical Allele Identifier: CA466098110

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 453905
• ClinVar RCV Id: RCV000559757 ; RCV002358427
• dbSNP Id: rs1341335793
• gnomAD v2: 9-98244476-T-C
• gnomAD v3: 9-95482194-T-C
• gnomAD v4: 9-95482194-T-C
• MyVariant Identifiers: chr9:g.98244476T>C (hg19) ; chr9:g.95482194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482194T>C , CM000671.2:g.95482194T>C	GRCh38
NC_000009.11:g.98244476T>C , CM000671.1:g.98244476T>C	GRCh37
NC_000009.10:g.97284297T>C	NCBI36
NG_007664.1:g.39772A>G , LRG_515:g.39772A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.396A>G	ENSP00000518556.1:p.Lys132=
ENST00000437951.6:c.591A>G MANE Plus Clinical	ENSP00000389744.2:p.Lys197=
ENST00000690194.1:c.141A>G	ENSP00000509379.1:p.Lys47=
ENST00000692981.1:c.141A>G	ENSP00000510238.1:p.Lys47=
ENST00000331920.11:c.594A>G MANE Select	ENSP00000332353.6:p.Lys198=
ENST00000331920.10:c.594A>G	ENSP00000332353.6:p.Lys198=
ENST00000375274.6:c.591A>G	ENSP00000364423.2:p.Lys197=
ENST00000375290.6:c.384-1606A>G	ENSP00000364439.2:n.384-1606A>G
ENST00000418258.5:c.141A>G	ENSP00000396135.1:p.Lys47=
ENST00000421141.5:c.141A>G	ENSP00000399981.1:p.Lys47=
ENST00000429896.6:c.141A>G	ENSP00000414823.2:p.Lys47=
ENST00000430669.6:c.396A>G	ENSP00000410287.2:p.Lys132=
ENST00000437951.5:c.396A>G	ENSP00000389744.1:p.Lys132=
ENST00000468211.6:c.396A>G	ENSP00000449745.1:p.Lys132=
ENST00000546820.5:c.141A>G	ENSP00000448843.1:p.Lys47=
ENST00000547672.5:c.141A>G	ENSP00000447878.1:p.Lys47=
ENST00000548379.5:n.247A>G
ENST00000548420.1:c.-94-1606A>G	ENSP00000449078.1:n.-94-1606A>G
ENST00000548945.6:n.194-1606A>G
ENST00000550136.1:n.2116A>G
ENST00000550914.6:c.176A>G	ENSP00000450047.1:p.Asn59Ser
ENST00000551623.1:c.236A>G	ENSP00000447242.1:n.236A>G
ENST00000551630.1:c.141A>G	ENSP00000450131.1:p.Lys47=
ENST00000551845.5:c.141A>G	ENSP00000447008.1:p.Lys47=
ENST00000553011.5:c.141A>G	ENSP00000447797.1:p.Lys47=
ENST00000553256.5:n.340A>G
NM_000264.3:c.594A>G , LRG_515t1:c.594A>G	NP_000255.2:p.Lys198=
NM_001083602.1:c.396A>G , LRG_515t2:c.396A>G	NP_001077071.1:p.Lys132=
NM_001083603.1:c.591A>G	NP_001077072.1:p.Lys197=
NM_001083604.1:c.141A>G	NP_001077073.1:p.Lys47=
NM_001083605.1:c.141A>G	NP_001077074.1:p.Lys47=
NM_001083606.1:c.141A>G	NP_001077075.1:p.Lys47=
NM_001083607.1:c.141A>G	NP_001077076.1:p.Lys47=
XM_005252102.2:c.141A>G	XP_005252159.1:p.Lys47=
XM_011518868.1:c.594A>G	XP_011517170.1:p.Lys198=
XM_011518869.1:c.141A>G	XP_011517171.1:p.Lys47=
XM_011518870.1:c.141A>G	XP_011517172.1:p.Lys47=
XM_011518871.1:c.141A>G	XP_011517173.1:p.Lys47=
XM_011518872.1:c.141A>G	XP_011517174.1:p.Lys47=
XM_011518873.1:c.-94-1606A>G	XP_011517175.1:n.-94-1606A>G
XM_011518874.1:c.594A>G	XP_011517176.1:p.Lys198=
NM_000264.4:c.594A>G	NP_000255.2:p.Lys198=
NM_001083602.2:c.396A>G	NP_001077071.1:p.Lys132=
NM_001083603.2:c.591A>G	NP_001077072.1:p.Lys197=
NM_001083604.2:c.141A>G	NP_001077073.1:p.Lys47=
NM_001083605.2:c.141A>G	NP_001077074.1:p.Lys47=
NM_001083606.2:c.141A>G	NP_001077075.1:p.Lys47=
NM_001083607.2:c.141A>G	NP_001077076.1:p.Lys47=
NM_001354918.1:c.594A>G	NP_001341847.1:p.Lys198=
NM_001354919.1:c.396A>G	NP_001341848.1:p.Lys132=
NR_149061.1:n.782A>G
NM_000264.5:c.594A>G MANE Select	NP_000255.2:p.Lys198=
NM_001083606.3:c.141A>G	NP_001077075.1:p.Lys47=
NM_001354918.2:c.594A>G	NP_001341847.1:p.Lys198=
NR_149061.2:n.1499A>G
NM_001083602.3:c.396A>G	NP_001077071.1:p.Lys132=
NM_001083603.3:c.591A>G MANE Plus Clinical	NP_001077072.1:p.Lys197=
NM_001083604.3:c.141A>G	NP_001077073.1:p.Lys47=
NM_001083605.3:c.141A>G	NP_001077074.1:p.Lys47=
NM_001083607.3:c.141A>G	NP_001077076.1:p.Lys47=
NM_001354919.2:c.396A>G	NP_001341848.1:p.Lys132=