Canonical Allele Identifier: CA374112988

Gene: PTCH1

Linked Data

• MyVariant Identifiers: chr9:g.98221938T>A (hg19) ; chr9:g.95459656T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95459656T>A , CM000671.2:g.95459656T>A	GRCh38
NC_000009.11:g.98221938T>A , CM000671.1:g.98221938T>A	GRCh37
NC_000009.10:g.97261759T>A	NCBI36
NG_007664.1:g.62310A>T , LRG_515:g.62310A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.2633A>T	ENSP00000518556.1:p.His878Leu
ENST00000437951.6:c.2828A>T MANE Plus Clinical	ENSP00000389744.2:p.His943Leu
ENST00000690194.1:c.*1139A>T	ENSP00000509379.1:n.*1139A>T
ENST00000692981.1:c.2378A>T	ENSP00000510238.1:p.His793Leu
ENST00000693534.1:n.162A>T
ENST00000331920.11:c.2831A>T MANE Select	ENSP00000332353.6:p.His944Leu
ENST00000331920.10:c.2831A>T	ENSP00000332353.6:p.His944Leu
ENST00000375274.6:c.2828A>T	ENSP00000364423.2:p.His943Leu
ENST00000375290.6:c.2600A>T	ENSP00000364439.2:n.2600A>T
ENST00000418258.5:c.2378A>T	ENSP00000396135.1:p.His793Leu
ENST00000421141.5:c.2378A>T	ENSP00000399981.1:p.His793Leu
ENST00000429896.6:c.2378A>T	ENSP00000414823.2:p.His793Leu
ENST00000430669.6:c.2633A>T	ENSP00000410287.2:p.His878Leu
ENST00000437951.5:c.2633A>T	ENSP00000389744.1:p.His878Leu
ENST00000547615.1:n.181A>T
NM_000264.3:c.2831A>T , LRG_515t1:c.2831A>T	NP_000255.2:p.His944Leu
NM_001083602.1:c.2633A>T , LRG_515t2:c.2633A>T	NP_001077071.1:p.His878Leu
NM_001083603.1:c.2828A>T	NP_001077072.1:p.His943Leu
NM_001083604.1:c.2378A>T	NP_001077073.1:p.His793Leu
NM_001083605.1:c.2378A>T	NP_001077074.1:p.His793Leu
NM_001083606.1:c.2378A>T	NP_001077075.1:p.His793Leu
NM_001083607.1:c.2378A>T	NP_001077076.1:p.His793Leu
XM_005252102.2:c.2378A>T	XP_005252159.1:p.His793Leu
XM_011518868.1:c.2675A>T	XP_011517170.1:p.His892Leu
XM_011518869.1:c.2378A>T	XP_011517171.1:p.His793Leu
XM_011518870.1:c.2378A>T	XP_011517172.1:p.His793Leu
XM_011518871.1:c.2378A>T	XP_011517173.1:p.His793Leu
XM_011518872.1:c.2378A>T	XP_011517174.1:p.His793Leu
XM_011518873.1:c.1991A>T	XP_011517175.1:p.His664Leu
XM_011518874.1:c.2831A>T	XP_011517176.1:p.His944Leu
NM_000264.4:c.2831A>T	NP_000255.2:p.His944Leu
NM_001083602.2:c.2633A>T	NP_001077071.1:p.His878Leu
NM_001083603.2:c.2828A>T	NP_001077072.1:p.His943Leu
NM_001083604.2:c.2378A>T	NP_001077073.1:p.His793Leu
NM_001083605.2:c.2378A>T	NP_001077074.1:p.His793Leu
NM_001083606.2:c.2378A>T	NP_001077075.1:p.His793Leu
NM_001083607.2:c.2378A>T	NP_001077076.1:p.His793Leu
NM_001354918.1:c.2675A>T	NP_001341847.1:p.His892Leu
NR_149061.1:n.2853A>T
NM_000264.5:c.2831A>T MANE Select	NP_000255.2:p.His944Leu
NM_001083606.3:c.2378A>T	NP_001077075.1:p.His793Leu
NM_001354918.2:c.2675A>T	NP_001341847.1:p.His892Leu
NR_149061.2:n.3570A>T
NM_001083602.3:c.2633A>T	NP_001077071.1:p.His878Leu
NM_001083603.3:c.2828A>T MANE Plus Clinical	NP_001077072.1:p.His943Leu
NM_001083604.3:c.2378A>T	NP_001077073.1:p.His793Leu
NM_001083605.3:c.2378A>T	NP_001077074.1:p.His793Leu
NM_001083607.3:c.2378A>T	NP_001077076.1:p.His793Leu