Canonical Allele Identifier: CA10634175
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 367642
dbSNP Id: rs73540181
gnomAD v2: 9-98207059-T-G
gnomAD v3: 9-95444777-T-G
gnomAD v4: 9-95444777-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95444777T>G , CM000671.2:g.95444777T>G GRCh38
NC_000009.11:g.98207059T>G , CM000671.1:g.98207059T>G GRCh37
NC_000009.10:g.97246880T>G NCBI36
NG_007664.1:g.77189A>C , LRG_515:g.77189A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000711046.1:c.*1616A>C ENSP00000518556.1:n.*1616A>C
ENST00000437951.6:c.*1616A>C MANE Plus Clinical ENSP00000389744.2:n.*1616A>C
ENST00000687744.1:n.4676A>C
ENST00000690194.1:c.*4268A>C ENSP00000509379.1:n.*4268A>C
ENST00000692981.1:c.*1616A>C ENSP00000510238.1:n.*1616A>C
ENST00000693534.1:n.3307A>C
ENST00000331920.11:c.*1616A>C MANE Select ENSP00000332353.6:n.*1616A>C
ENST00000331920.10:c.*1616A>C ENSP00000332353.6:n.*1616A>C
ENST00000375290.6:c.9266A>C ENSP00000364439.2:n.9266A>C
ENST00000418258.5:c.*1616A>C ENSP00000396135.1:n.*1616A>C
ENST00000421141.5:c.*1616A>C ENSP00000399981.1:n.*1616A>C
ENST00000429896.6:c.*1616A>C ENSP00000414823.2:n.*1616A>C
ENST00000430669.6:c.*2135A>C ENSP00000410287.2:n.*2135A>C
ENST00000437951.5:c.*1616A>C ENSP00000389744.1:n.*1616A>C
ENST00000546744.5:n.3024A>C
NM_000264.3:c.*1616A>C , LRG_515t1:c.*1616A>C NP_000255.2:n.*1616A>C
NM_001083602.1:c.*1616A>C , LRG_515t2:c.*1616A>C NP_001077071.1:n.*1616A>C
NM_001083603.1:c.*1616A>C NP_001077072.1:n.*1616A>C
NM_001083604.1:c.*1616A>C NP_001077073.1:n.*1616A>C
NM_001083605.1:c.*1616A>C NP_001077074.1:n.*1616A>C
NM_001083606.1:c.*1616A>C NP_001077075.1:n.*1616A>C
NM_001083607.1:c.*1616A>C NP_001077076.1:n.*1616A>C
XM_005252102.2:c.*1616A>C XP_005252159.1:n.*1616A>C
XM_011518868.1:c.*1616A>C XP_011517170.1:n.*1616A>C
XM_011518869.1:c.*1616A>C XP_011517171.1:n.*1616A>C
XM_011518870.1:c.*1616A>C XP_011517172.1:n.*1616A>C
XM_011518871.1:c.*1616A>C XP_011517173.1:n.*1616A>C
XM_011518872.1:c.*1616A>C XP_011517174.1:n.*1616A>C
XM_011518873.1:c.*1616A>C XP_011517175.1:n.*1616A>C
NM_000264.4:c.*1616A>C NP_000255.2:n.*1616A>C
NM_001083602.2:c.*1616A>C NP_001077071.1:n.*1616A>C
NM_001083603.2:c.*1616A>C NP_001077072.1:n.*1616A>C
NM_001083604.2:c.*1616A>C NP_001077073.1:n.*1616A>C
NM_001083605.2:c.*1616A>C NP_001077074.1:n.*1616A>C
NM_001083606.2:c.*1616A>C NP_001077075.1:n.*1616A>C
NM_001083607.2:c.*1616A>C NP_001077076.1:n.*1616A>C
NM_001354918.1:c.*1616A>C NP_001341847.1:n.*1616A>C
NR_149061.1:n.5982A>C
NM_000264.5:c.*1616A>C MANE Select NP_000255.2:n.*1616A>C
NM_001083606.3:c.*1616A>C NP_001077075.1:n.*1616A>C
NM_001354918.2:c.*1616A>C NP_001341847.1:n.*1616A>C
NR_149061.2:n.6699A>C
NM_001083602.3:c.*1616A>C NP_001077071.1:n.*1616A>C
NM_001083603.3:c.*1616A>C MANE Plus Clinical NP_001077072.1:n.*1616A>C
NM_001083604.3:c.*1616A>C NP_001077073.1:n.*1616A>C
NM_001083605.3:c.*1616A>C NP_001077074.1:n.*1616A>C
NM_001083607.3:c.*1616A>C NP_001077076.1:n.*1616A>C