Canonical Allele Identifier: CA16042793
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373406
ClinVar RCV Id: RCV000412941 RCV001850994
dbSNP Id: rs1057518400
MyVariant Identifiers: chr9:g.98239140C>G (hg19) chr9:g.95476858C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95476858C>G , CM000671.2:g.95476858C>G GRCh38
NC_000009.11:g.98239140C>G , CM000671.1:g.98239140C>G GRCh37
NC_000009.10:g.97278961C>G NCBI36
NG_007664.1:g.45108G>C , LRG_515:g.45108G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.1306-1G>C ENSP00000518556.1:n.1306-1G>C
ENST00000437951.6:c.1501-1G>C MANE Plus Clinical ENSP00000389744.2:n.1501-1G>C
ENST00000690194.1:c.1051-1G>C ENSP00000509379.1:n.1051-1G>C
ENST00000692981.1:c.1051-1G>C ENSP00000510238.1:n.1051-1G>C
ENST00000331920.11:c.1504-1G>C MANE Select ENSP00000332353.6:n.1504-1G>C
ENST00000331920.10:c.1504-1G>C ENSP00000332353.6:n.1504-1G>C
ENST00000375271.4:c.499-1G>C ENSP00000364420.4:n.499-1G>C
ENST00000375274.6:c.1501-1G>C ENSP00000364423.2:n.1501-1G>C
ENST00000375290.6:c.1141-1G>C ENSP00000364439.2:n.1141-1G>C
ENST00000418258.5:c.1051-1G>C ENSP00000396135.1:n.1051-1G>C
ENST00000421141.5:c.1051-1G>C ENSP00000399981.1:n.1051-1G>C
ENST00000429896.6:c.1051-1G>C ENSP00000414823.2:n.1051-1G>C
ENST00000430669.6:c.1306-1G>C ENSP00000410287.2:n.1306-1G>C
ENST00000437951.5:c.1306-1G>C ENSP00000389744.1:n.1306-1G>C
NM_000264.3:c.1504-1G>C , LRG_515t1:c.1504-1G>C NP_000255.2:n.1504-1G>C
NM_001083602.1:c.1306-1G>C , LRG_515t2:c.1306-1G>C NP_001077071.1:n.1306-1G>C
NM_001083603.1:c.1501-1G>C NP_001077072.1:n.1501-1G>C
NM_001083604.1:c.1051-1G>C NP_001077073.1:n.1051-1G>C
NM_001083605.1:c.1051-1G>C NP_001077074.1:n.1051-1G>C
NM_001083606.1:c.1051-1G>C NP_001077075.1:n.1051-1G>C
NM_001083607.1:c.1051-1G>C NP_001077076.1:n.1051-1G>C
XM_005252102.2:c.1051-1G>C XP_005252159.1:n.1051-1G>C
XM_011518868.1:c.1348-1G>C XP_011517170.1:n.1348-1G>C
XM_011518869.1:c.1051-1G>C XP_011517171.1:n.1051-1G>C
XM_011518870.1:c.1051-1G>C XP_011517172.1:n.1051-1G>C
XM_011518871.1:c.1051-1G>C XP_011517173.1:n.1051-1G>C
XM_011518872.1:c.1051-1G>C XP_011517174.1:n.1051-1G>C
XM_011518873.1:c.664-1G>C XP_011517175.1:n.664-1G>C
XM_011518874.1:c.1504-1G>C XP_011517176.1:n.1504-1G>C
NM_000264.4:c.1504-1G>C NP_000255.2:n.1504-1G>C
NM_001083602.2:c.1306-1G>C NP_001077071.1:n.1306-1G>C
NM_001083603.2:c.1501-1G>C NP_001077072.1:n.1501-1G>C
NM_001083604.2:c.1051-1G>C NP_001077073.1:n.1051-1G>C
NM_001083605.2:c.1051-1G>C NP_001077074.1:n.1051-1G>C
NM_001083606.2:c.1051-1G>C NP_001077075.1:n.1051-1G>C
NM_001083607.2:c.1051-1G>C NP_001077076.1:n.1051-1G>C
NM_001354918.1:c.1348-1G>C NP_001341847.1:n.1348-1G>C
NR_149061.1:n.1692-1G>C
NM_000264.5:c.1504-1G>C MANE Select NP_000255.2:n.1504-1G>C
NM_001083606.3:c.1051-1G>C NP_001077075.1:n.1051-1G>C
NM_001354918.2:c.1348-1G>C NP_001341847.1:n.1348-1G>C
NR_149061.2:n.2409-1G>C
NM_001083602.3:c.1306-1G>C NP_001077071.1:n.1306-1G>C
NM_001083603.3:c.1501-1G>C MANE Plus Clinical NP_001077072.1:n.1501-1G>C
NM_001083604.3:c.1051-1G>C NP_001077073.1:n.1051-1G>C
NM_001083605.3:c.1051-1G>C NP_001077074.1:n.1051-1G>C
NM_001083607.3:c.1051-1G>C NP_001077076.1:n.1051-1G>C
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