Canonical Allele Identifier: CA374115156

Gene: PTCH1

Linked Data

• dbSNP Id: rs1064793922
• gnomAD v2: 9-98244480-C-A
• MyVariant Identifiers: chr9:g.98244480C>A (hg19) ; chr9:g.95482198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482198C>A , CM000671.2:g.95482198C>A	GRCh38
NC_000009.11:g.98244480C>A , CM000671.1:g.98244480C>A	GRCh37
NC_000009.10:g.97284301C>A	NCBI36
NG_007664.1:g.39768G>T , LRG_515:g.39768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.392G>T	ENSP00000518556.1:p.Trp131Leu
ENST00000437951.6:c.587G>T MANE Plus Clinical	ENSP00000389744.2:p.Trp196Leu
ENST00000690194.1:c.137G>T	ENSP00000509379.1:p.Trp46Leu
ENST00000692981.1:c.137G>T	ENSP00000510238.1:p.Trp46Leu
ENST00000331920.11:c.590G>T MANE Select	ENSP00000332353.6:p.Trp197Leu
ENST00000331920.10:c.590G>T	ENSP00000332353.6:p.Trp197Leu
ENST00000375274.6:c.587G>T	ENSP00000364423.2:p.Trp196Leu
ENST00000375290.6:c.384-1610G>T	ENSP00000364439.2:n.384-1610G>T
ENST00000418258.5:c.137G>T	ENSP00000396135.1:p.Trp46Leu
ENST00000421141.5:c.137G>T	ENSP00000399981.1:p.Trp46Leu
ENST00000429896.6:c.137G>T	ENSP00000414823.2:p.Trp46Leu
ENST00000430669.6:c.392G>T	ENSP00000410287.2:p.Trp131Leu
ENST00000437951.5:c.392G>T	ENSP00000389744.1:p.Trp131Leu
ENST00000468211.6:c.392G>T	ENSP00000449745.1:p.Trp131Leu
ENST00000546820.5:c.137G>T	ENSP00000448843.1:p.Trp46Leu
ENST00000547672.5:c.137G>T	ENSP00000447878.1:p.Trp46Leu
ENST00000548379.5:n.243G>T
ENST00000548420.1:c.-94-1610G>T	ENSP00000449078.1:n.-94-1610G>T
ENST00000548945.6:n.194-1610G>T
ENST00000550136.1:n.2112G>T
ENST00000550914.6:c.172G>T	ENSP00000450047.1:p.Gly58Ter
ENST00000551623.1:c.232G>T	ENSP00000447242.1:n.232G>T
ENST00000551630.1:c.137G>T	ENSP00000450131.1:p.Trp46Leu
ENST00000551845.5:c.137G>T	ENSP00000447008.1:p.Trp46Leu
ENST00000553011.5:c.137G>T	ENSP00000447797.1:p.Trp46Leu
ENST00000553256.5:n.336G>T
NM_000264.3:c.590G>T , LRG_515t1:c.590G>T	NP_000255.2:p.Trp197Leu
NM_001083602.1:c.392G>T , LRG_515t2:c.392G>T	NP_001077071.1:p.Trp131Leu
NM_001083603.1:c.587G>T	NP_001077072.1:p.Trp196Leu
NM_001083604.1:c.137G>T	NP_001077073.1:p.Trp46Leu
NM_001083605.1:c.137G>T	NP_001077074.1:p.Trp46Leu
NM_001083606.1:c.137G>T	NP_001077075.1:p.Trp46Leu
NM_001083607.1:c.137G>T	NP_001077076.1:p.Trp46Leu
XM_005252102.2:c.137G>T	XP_005252159.1:p.Trp46Leu
XM_011518868.1:c.590G>T	XP_011517170.1:p.Trp197Leu
XM_011518869.1:c.137G>T	XP_011517171.1:p.Trp46Leu
XM_011518870.1:c.137G>T	XP_011517172.1:p.Trp46Leu
XM_011518871.1:c.137G>T	XP_011517173.1:p.Trp46Leu
XM_011518872.1:c.137G>T	XP_011517174.1:p.Trp46Leu
XM_011518873.1:c.-94-1610G>T	XP_011517175.1:n.-94-1610G>T
XM_011518874.1:c.590G>T	XP_011517176.1:p.Trp197Leu
NM_000264.4:c.590G>T	NP_000255.2:p.Trp197Leu
NM_001083602.2:c.392G>T	NP_001077071.1:p.Trp131Leu
NM_001083603.2:c.587G>T	NP_001077072.1:p.Trp196Leu
NM_001083604.2:c.137G>T	NP_001077073.1:p.Trp46Leu
NM_001083605.2:c.137G>T	NP_001077074.1:p.Trp46Leu
NM_001083606.2:c.137G>T	NP_001077075.1:p.Trp46Leu
NM_001083607.2:c.137G>T	NP_001077076.1:p.Trp46Leu
NM_001354918.1:c.590G>T	NP_001341847.1:p.Trp197Leu
NM_001354919.1:c.392G>T	NP_001341848.1:p.Trp131Leu
NR_149061.1:n.778G>T
NM_000264.5:c.590G>T MANE Select	NP_000255.2:p.Trp197Leu
NM_001083606.3:c.137G>T	NP_001077075.1:p.Trp46Leu
NM_001354918.2:c.590G>T	NP_001341847.1:p.Trp197Leu
NR_149061.2:n.1495G>T
NM_001083602.3:c.392G>T	NP_001077071.1:p.Trp131Leu
NM_001083603.3:c.587G>T MANE Plus Clinical	NP_001077072.1:p.Trp196Leu
NM_001083604.3:c.137G>T	NP_001077073.1:p.Trp46Leu
NM_001083605.3:c.137G>T	NP_001077074.1:p.Trp46Leu
NM_001083607.3:c.137G>T	NP_001077076.1:p.Trp46Leu
NM_001354919.2:c.392G>T	NP_001341848.1:p.Trp131Leu