Canonical Allele Identifier: CA5138428
Gene: PTCH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 255675
ClinVar RCV Id: RCV000247840
dbSNP Id: rs16909898
COSMIC: COSM14468

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95468726A>G , CM000671.2:g.95468726A>G GRCh38
NC_000009.11:g.98231008A>G , CM000671.1:g.98231008A>G GRCh37
NC_000009.10:g.97270829A>G NCBI36
NG_007664.1:g.53240T>C , LRG_515:g.53240T>C

Transcript Alleles

HGVS Amino-acid change
NM_000264.3:c.2250+25T>C , LRG_515t1:c.2250+25T>C NP_000255.2:p.=
NM_001083602.1:c.2052+25T>C , LRG_515t2:c.2052+25T>C NP_001077071.1:p.=
NM_001083603.1:c.2247+25T>C VV NP_001077072.1:p.=
NM_001083604.1:c.1797+25T>C VV NP_001077073.1:p.=
NM_001083605.1:c.1797+25T>C VV NP_001077074.1:p.=
NM_001083606.1:c.1797+25T>C VV NP_001077075.1:p.=
NM_001083607.1:c.1797+25T>C VV NP_001077076.1:p.=
NR_038982.1:n.664A>G
XM_005252102.2:c.1797+25T>C XP_005252159.1:p.=
XM_011518868.1:c.2094+25T>C XP_011517170.1:p.=
XM_011518869.1:c.1797+25T>C XP_011517171.1:p.=
XM_011518870.1:c.1797+25T>C XP_011517172.1:p.=
XM_011518871.1:c.1797+25T>C XP_011517173.1:p.=
XM_011518872.1:c.1797+25T>C XP_011517174.1:p.=
XM_011518873.1:c.1410+25T>C XP_011517175.1:p.=
XM_011518874.1:c.2250+25T>C XP_011517176.1:p.=
NM_000264.4:c.2250+25T>C VV NP_000255.2:p.=
NM_001083602.2:c.2052+25T>C VV NP_001077071.1:p.=
NM_001083603.2:c.2247+25T>C VV NP_001077072.1:p.=
NM_001083604.2:c.1797+25T>C VV NP_001077073.1:p.=
NM_001083605.2:c.1797+25T>C VV NP_001077074.1:p.=
NM_001083606.2:c.1797+25T>C VV NP_001077075.1:p.=
NM_001083607.2:c.1797+25T>C VV NP_001077076.1:p.=
NM_001354918.1:c.2094+25T>C VV NP_001341847.1:p.=
NR_149061.1:n.2438+25T>C
ENST00000331920.10:c.2250+25T>C ENSP00000332353.6:p.=
ENST00000375274.6:c.2247+25T>C ENSP00000364423.2:p.=
ENST00000375290.6:n.2019+25T>C ENSP00000364439.2:p.=
ENST00000418258.5:c.1797+25T>C ENSP00000396135.1:p.=
ENST00000421141.5:c.1797+25T>C ENSP00000399981.1:p.=
ENST00000429896.6:c.1797+25T>C ENSP00000414823.2:p.=
ENST00000430669.6:c.2052+25T>C ENSP00000410287.2:p.=
ENST00000437951.5:c.2052+25T>C ENSP00000389744.1:p.=
ENST00000549678.1:n.439+25T>C