Canonical Allele Identifier: CA16612778
Community Standard Title: NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter)
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95481987C>T , CM000671.2:g.95481987C>T GRCh38
NC_000009.11:g.98244269C>T , CM000671.1:g.98244269C>T GRCh37
NC_000009.10:g.97284090C>T NCBI36
NG_007664.1:g.39979G>A , LRG_515:g.39979G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.708G>A MANE Select NP_000255.2:p.Trp236Ter
ENST00000331920.11:c.708G>A MANE Select ENSP00000332353.6:p.Trp236Ter
NM_001083603.3:c.705G>A MANE Plus Clinical NP_001077072.1:p.Trp235Ter
ENST00000437951.6:c.705G>A MANE Plus Clinical ENSP00000389744.2:p.Trp235Ter
NM_000264.3:c.708G>A , LRG_515t1:c.708G>A NP_000255.2:p.Trp236Ter
NM_000264.4:c.708G>A NP_000255.2:p.Trp236Ter
NM_001083602.1:c.510G>A , LRG_515t2:c.510G>A NP_001077071.1:p.Trp170Ter
NM_001083602.2:c.510G>A NP_001077071.1:p.Trp170Ter
NM_001083602.3:c.510G>A NP_001077071.1:p.Trp170Ter
NM_001083603.1:c.705G>A NP_001077072.1:p.Trp235Ter
NM_001083603.2:c.705G>A NP_001077072.1:p.Trp235Ter
NM_001083604.1:c.255G>A NP_001077073.1:p.Trp85Ter
NM_001083604.2:c.255G>A NP_001077073.1:p.Trp85Ter
NM_001083604.3:c.255G>A NP_001077073.1:p.Trp85Ter
NM_001083605.1:c.255G>A NP_001077074.1:p.Trp85Ter
NM_001083605.2:c.255G>A NP_001077074.1:p.Trp85Ter
NM_001083605.3:c.255G>A NP_001077074.1:p.Trp85Ter
NM_001083606.1:c.255G>A NP_001077075.1:p.Trp85Ter
NM_001083606.2:c.255G>A NP_001077075.1:p.Trp85Ter
NM_001083606.3:c.255G>A NP_001077075.1:p.Trp85Ter
NM_001083607.1:c.255G>A NP_001077076.1:p.Trp85Ter
NM_001083607.2:c.255G>A NP_001077076.1:p.Trp85Ter
NM_001083607.3:c.255G>A NP_001077076.1:p.Trp85Ter
NM_001354918.1:c.708G>A NP_001341847.1:p.Trp236Ter
NM_001354918.2:c.708G>A NP_001341847.1:p.Trp236Ter
NM_001354919.1:c.510G>A NP_001341848.1:p.Trp170Ter
NM_001354919.2:c.510G>A NP_001341848.1:p.Trp170Ter
NR_149061.1:n.896G>A
NR_149061.2:n.1613G>A
ENST00000331920.10:c.708G>A ENSP00000332353.6:p.Trp236Ter
ENST00000375274.6:c.705G>A ENSP00000364423.2:p.Trp235Ter
ENST00000375290.6:c.384-1399G>A ENSP00000364439.2:n.384-1399G>A
ENST00000418258.5:c.255G>A ENSP00000396135.1:p.Trp85Ter
ENST00000421141.5:c.255G>A ENSP00000399981.1:p.Trp85Ter
ENST00000429896.6:c.255G>A ENSP00000414823.2:p.Trp85Ter
ENST00000430669.6:c.510G>A ENSP00000410287.2:p.Trp170Ter
ENST00000437951.5:c.510G>A ENSP00000389744.1:p.Trp170Ter
ENST00000468211.6:c.510G>A ENSP00000449745.1:p.Trp170Ter
ENST00000546820.5:c.255G>A ENSP00000448843.1:p.Trp85Ter
ENST00000547672.5:c.255G>A ENSP00000447878.1:p.Trp85Ter
ENST00000548379.5:n.361G>A
ENST00000548420.1:c.-94-1399G>A ENSP00000449078.1:n.-94-1399G>A
ENST00000548945.6:n.194-1399G>A
ENST00000550136.1:n.2230G>A
ENST00000550914.6:c.*50G>A ENSP00000450047.1:n.*50G>A
ENST00000551623.1:c.350G>A ENSP00000447242.1:n.350G>A
ENST00000551630.1:c.255G>A ENSP00000450131.1:p.Trp85Ter
ENST00000551845.5:c.255G>A ENSP00000447008.1:p.Trp85Ter
ENST00000553011.5:c.255G>A ENSP00000447797.1:p.Trp85Ter
ENST00000553256.5:n.454G>A
ENST00000690194.1:c.255G>A ENSP00000509379.1:p.Trp85Ter
ENST00000692981.1:c.255G>A ENSP00000510238.1:p.Trp85Ter
ENST00000711046.1:c.510G>A ENSP00000518556.1:p.Trp170Ter
XM_005252102.2:c.255G>A XP_005252159.1:p.Trp85Ter
XM_011518868.1:c.708G>A XP_011517170.1:p.Trp236Ter
XM_011518869.1:c.255G>A XP_011517171.1:p.Trp85Ter
XM_011518870.1:c.255G>A XP_011517172.1:p.Trp85Ter
XM_011518871.1:c.255G>A XP_011517173.1:p.Trp85Ter
XM_011518872.1:c.255G>A XP_011517174.1:p.Trp85Ter
XM_011518873.1:c.-94-1399G>A XP_011517175.1:n.-94-1399G>A
XM_011518874.1:c.708G>A XP_011517176.1:p.Trp236Ter