Canonical Allele Identifier: CA071573

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 221931
• ClinVar RCV Id: RCV000207365 ; RCV000456174 ; RCV001019083 ; RCV003477708 ; RCV003955238
• dbSNP Id: rs368417828
• ExAC: 9:98218673 G / A
• gnomAD v2: 9-98218673-G-A
• gnomAD v3: 9-95456391-G-A
• gnomAD v4: 9-95456391-G-A
• COSMIC: COSM1111448 ; COSM1111449 ; COSM1111451 ; COSM1111452
• MyVariant Identifiers: chr9:g.98218673G>A (hg19) ; chr9:g.95456391G>A (hg38)
• PubMed: PMID:26893459

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95456391G>A , CM000671.2:g.95456391G>A	GRCh38
NC_000009.11:g.98218673G>A , CM000671.1:g.98218673G>A	GRCh37
NC_000009.10:g.97258494G>A	NCBI36
NG_007664.1:g.65575C>T , LRG_515:g.65575C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.2993C>T	ENSP00000518556.1:p.Thr998Met
ENST00000437951.6:c.3188C>T MANE Plus Clinical	ENSP00000389744.2:p.Thr1063Met
ENST00000690194.1:c.*1499C>T	ENSP00000509379.1:n.*1499C>T
ENST00000692981.1:c.2738C>T	ENSP00000510238.1:p.Thr913Met
ENST00000693534.1:n.522C>T
ENST00000331920.11:c.3191C>T MANE Select	ENSP00000332353.6:p.Thr1064Met
ENST00000331920.10:c.3191C>T	ENSP00000332353.6:p.Thr1064Met
ENST00000375274.6:c.3188C>T	ENSP00000364423.2:p.Thr1063Met
ENST00000375290.6:c.2960C>T	ENSP00000364439.2:n.2960C>T
ENST00000418258.5:c.2738C>T	ENSP00000396135.1:p.Thr913Met
ENST00000421141.5:c.2738C>T	ENSP00000399981.1:p.Thr913Met
ENST00000429896.6:c.2738C>T	ENSP00000414823.2:p.Thr913Met
ENST00000430669.6:c.2993C>T	ENSP00000410287.2:p.Thr998Met
ENST00000437951.5:c.2993C>T	ENSP00000389744.1:p.Thr998Met
NM_000264.3:c.3191C>T , LRG_515t1:c.3191C>T	NP_000255.2:p.Thr1064Met
NM_001083602.1:c.2993C>T , LRG_515t2:c.2993C>T	NP_001077071.1:p.Thr998Met
NM_001083603.1:c.3188C>T	NP_001077072.1:p.Thr1063Met
NM_001083604.1:c.2738C>T	NP_001077073.1:p.Thr913Met
NM_001083605.1:c.2738C>T	NP_001077074.1:p.Thr913Met
NM_001083606.1:c.2738C>T	NP_001077075.1:p.Thr913Met
NM_001083607.1:c.2738C>T	NP_001077076.1:p.Thr913Met
XM_005252102.2:c.2738C>T	XP_005252159.1:p.Thr913Met
XM_011518868.1:c.3035C>T	XP_011517170.1:p.Thr1012Met
XM_011518869.1:c.2738C>T	XP_011517171.1:p.Thr913Met
XM_011518870.1:c.2738C>T	XP_011517172.1:p.Thr913Met
XM_011518871.1:c.2738C>T	XP_011517173.1:p.Thr913Met
XM_011518872.1:c.2738C>T	XP_011517174.1:p.Thr913Met
XM_011518873.1:c.2351C>T	XP_011517175.1:p.Thr784Met
XM_011518874.1:c.3191C>T	XP_011517176.1:p.Thr1064Met
NM_000264.4:c.3191C>T	NP_000255.2:p.Thr1064Met
NM_001083602.2:c.2993C>T	NP_001077071.1:p.Thr998Met
NM_001083603.2:c.3188C>T	NP_001077072.1:p.Thr1063Met
NM_001083604.2:c.2738C>T	NP_001077073.1:p.Thr913Met
NM_001083605.2:c.2738C>T	NP_001077074.1:p.Thr913Met
NM_001083606.2:c.2738C>T	NP_001077075.1:p.Thr913Met
NM_001083607.2:c.2738C>T	NP_001077076.1:p.Thr913Met
NM_001354918.1:c.3035C>T	NP_001341847.1:p.Thr1012Met
NR_149061.1:n.3213C>T
NM_000264.5:c.3191C>T MANE Select	NP_000255.2:p.Thr1064Met
NM_001083606.3:c.2738C>T	NP_001077075.1:p.Thr913Met
NM_001354918.2:c.3035C>T	NP_001341847.1:p.Thr1012Met
NR_149061.2:n.3930C>T
NM_001083602.3:c.2993C>T	NP_001077071.1:p.Thr998Met
NM_001083603.3:c.3188C>T MANE Plus Clinical	NP_001077072.1:p.Thr1063Met
NM_001083604.3:c.2738C>T	NP_001077073.1:p.Thr913Met
NM_001083605.3:c.2738C>T	NP_001077074.1:p.Thr913Met
NM_001083607.3:c.2738C>T	NP_001077076.1:p.Thr913Met