Canonical Allele Identifier: CA374113007

Gene: PTCH1

Linked Data

• dbSNP Id: rs1434126591
• gnomAD v2: 9-98221948-T-A
• gnomAD v4: 9-95459666-T-A
• MyVariant Identifiers: chr9:g.98221948T>A (hg19) ; chr9:g.95459666T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95459666T>A , CM000671.2:g.95459666T>A	GRCh38
NC_000009.11:g.98221948T>A , CM000671.1:g.98221948T>A	GRCh37
NC_000009.10:g.97261769T>A	NCBI36
NG_007664.1:g.62300A>T , LRG_515:g.62300A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.2623A>T	ENSP00000518556.1:p.Ile875Phe
ENST00000437951.6:c.2818A>T MANE Plus Clinical	ENSP00000389744.2:p.Ile940Phe
ENST00000690194.1:c.*1129A>T	ENSP00000509379.1:n.*1129A>T
ENST00000692981.1:c.2368A>T	ENSP00000510238.1:p.Ile790Phe
ENST00000693534.1:n.152A>T
ENST00000331920.11:c.2821A>T MANE Select	ENSP00000332353.6:p.Ile941Phe
ENST00000331920.10:c.2821A>T	ENSP00000332353.6:p.Ile941Phe
ENST00000375274.6:c.2818A>T	ENSP00000364423.2:p.Ile940Phe
ENST00000375290.6:c.2590A>T	ENSP00000364439.2:n.2590A>T
ENST00000418258.5:c.2368A>T	ENSP00000396135.1:p.Ile790Phe
ENST00000421141.5:c.2368A>T	ENSP00000399981.1:p.Ile790Phe
ENST00000429896.6:c.2368A>T	ENSP00000414823.2:p.Ile790Phe
ENST00000430669.6:c.2623A>T	ENSP00000410287.2:p.Ile875Phe
ENST00000437951.5:c.2623A>T	ENSP00000389744.1:p.Ile875Phe
ENST00000547615.1:n.171A>T
NM_000264.3:c.2821A>T , LRG_515t1:c.2821A>T	NP_000255.2:p.Ile941Phe
NM_001083602.1:c.2623A>T , LRG_515t2:c.2623A>T	NP_001077071.1:p.Ile875Phe
NM_001083603.1:c.2818A>T	NP_001077072.1:p.Ile940Phe
NM_001083604.1:c.2368A>T	NP_001077073.1:p.Ile790Phe
NM_001083605.1:c.2368A>T	NP_001077074.1:p.Ile790Phe
NM_001083606.1:c.2368A>T	NP_001077075.1:p.Ile790Phe
NM_001083607.1:c.2368A>T	NP_001077076.1:p.Ile790Phe
XM_005252102.2:c.2368A>T	XP_005252159.1:p.Ile790Phe
XM_011518868.1:c.2665A>T	XP_011517170.1:p.Ile889Phe
XM_011518869.1:c.2368A>T	XP_011517171.1:p.Ile790Phe
XM_011518870.1:c.2368A>T	XP_011517172.1:p.Ile790Phe
XM_011518871.1:c.2368A>T	XP_011517173.1:p.Ile790Phe
XM_011518872.1:c.2368A>T	XP_011517174.1:p.Ile790Phe
XM_011518873.1:c.1981A>T	XP_011517175.1:p.Ile661Phe
XM_011518874.1:c.2821A>T	XP_011517176.1:p.Ile941Phe
NM_000264.4:c.2821A>T	NP_000255.2:p.Ile941Phe
NM_001083602.2:c.2623A>T	NP_001077071.1:p.Ile875Phe
NM_001083603.2:c.2818A>T	NP_001077072.1:p.Ile940Phe
NM_001083604.2:c.2368A>T	NP_001077073.1:p.Ile790Phe
NM_001083605.2:c.2368A>T	NP_001077074.1:p.Ile790Phe
NM_001083606.2:c.2368A>T	NP_001077075.1:p.Ile790Phe
NM_001083607.2:c.2368A>T	NP_001077076.1:p.Ile790Phe
NM_001354918.1:c.2665A>T	NP_001341847.1:p.Ile889Phe
NR_149061.1:n.2843A>T
NM_000264.5:c.2821A>T MANE Select	NP_000255.2:p.Ile941Phe
NM_001083606.3:c.2368A>T	NP_001077075.1:p.Ile790Phe
NM_001354918.2:c.2665A>T	NP_001341847.1:p.Ile889Phe
NR_149061.2:n.3560A>T
NM_001083602.3:c.2623A>T	NP_001077071.1:p.Ile875Phe
NM_001083603.3:c.2818A>T MANE Plus Clinical	NP_001077072.1:p.Ile940Phe
NM_001083604.3:c.2368A>T	NP_001077073.1:p.Ile790Phe
NM_001083605.3:c.2368A>T	NP_001077074.1:p.Ile790Phe
NM_001083607.3:c.2368A>T	NP_001077076.1:p.Ile790Phe