Canonical Allele Identifier: CA374120608
Community Standard Title: NM_000264.5(PTCH1):c.239G>A (p.Arg80Lys)
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95506562C>T , CM000671.2:g.95506562C>T GRCh38
NC_000009.11:g.98268844C>T , CM000671.1:g.98268844C>T GRCh37
NC_000009.10:g.97308665C>T NCBI36
NG_007664.1:g.15404G>A , LRG_515:g.15404G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.239G>A MANE Select NP_000255.2:p.Arg80Lys
ENST00000331920.11:c.239G>A MANE Select ENSP00000332353.6:p.Arg80Lys
NM_001083603.3:c.236G>A MANE Plus Clinical NP_001077072.1:p.Arg79Lys
ENST00000437951.6:c.236G>A MANE Plus Clinical ENSP00000389744.2:p.Arg79Lys
NM_000264.3:c.239G>A , LRG_515t1:c.239G>A NP_000255.2:p.Arg80Lys
NM_000264.4:c.239G>A NP_000255.2:p.Arg80Lys
NM_001083602.1:c.41G>A , LRG_515t2:c.41G>A NP_001077071.1:p.Arg14Lys
NM_001083602.2:c.41G>A NP_001077071.1:p.Arg14Lys
NM_001083602.3:c.41G>A NP_001077071.1:p.Arg14Lys
NM_001083603.1:c.236G>A NP_001077072.1:p.Arg79Lys
NM_001083603.2:c.236G>A NP_001077072.1:p.Arg79Lys
NM_001083604.1:c.-215G>A NP_001077073.1:n.-215G>A
NM_001083604.2:c.-215G>A NP_001077073.1:n.-215G>A
NM_001083604.3:c.-215G>A NP_001077073.1:n.-215G>A
NM_001083605.1:c.-215G>A NP_001077074.1:n.-215G>A
NM_001083605.2:c.-215G>A NP_001077074.1:n.-215G>A
NM_001083605.3:c.-215G>A NP_001077074.1:n.-215G>A
NM_001083606.1:c.-215G>A NP_001077075.1:n.-215G>A
NM_001083606.2:c.-215G>A NP_001077075.1:n.-215G>A
NM_001083606.3:c.-215G>A NP_001077075.1:n.-215G>A
NM_001083607.1:c.-215G>A NP_001077076.1:n.-215G>A
NM_001083607.2:c.-215G>A NP_001077076.1:n.-215G>A
NM_001083607.3:c.-215G>A NP_001077076.1:n.-215G>A
NM_001354918.1:c.239G>A NP_001341847.1:p.Arg80Lys
NM_001354918.2:c.239G>A NP_001341847.1:p.Arg80Lys
NM_001354919.1:c.41G>A NP_001341848.1:p.Arg14Lys
NM_001354919.2:c.41G>A NP_001341848.1:p.Arg14Lys
NR_149061.1:n.427G>A
NR_149061.2:n.1144G>A
ENST00000331920.10:c.239G>A ENSP00000332353.6:p.Arg80Lys
ENST00000375274.6:c.236G>A ENSP00000364423.2:p.Arg79Lys
ENST00000375290.6:c.38G>A ENSP00000364439.2:p.Arg13Lys
ENST00000418258.5:c.-215G>A ENSP00000396135.1:n.-215G>A
ENST00000421141.5:c.-215G>A ENSP00000399981.1:n.-215G>A
ENST00000429896.6:c.-215G>A ENSP00000414823.2:n.-215G>A
ENST00000430669.6:c.41G>A ENSP00000410287.2:p.Arg14Lys
ENST00000437951.5:c.41G>A ENSP00000389744.1:p.Arg14Lys
ENST00000468211.6:c.41G>A ENSP00000449745.1:p.Arg14Lys
ENST00000546820.5:c.-215G>A ENSP00000448843.1:n.-215G>A
ENST00000547672.5:c.-215G>A ENSP00000447878.1:n.-215G>A
ENST00000548420.1:c.-250G>A ENSP00000449078.1:n.-250G>A
ENST00000548945.6:n.38G>A
ENST00000550914.6:c.-215G>A ENSP00000450047.1:n.-215G>A
ENST00000551425.1:n.190+9907G>A
ENST00000551623.1:c.36+10061G>A ENSP00000447242.1:n.36+10061G>A
ENST00000551630.1:c.-215G>A ENSP00000450131.1:n.-215G>A
ENST00000551845.5:c.-215G>A ENSP00000447008.1:n.-215G>A
ENST00000553011.5:c.-215G>A ENSP00000447797.1:n.-215G>A
ENST00000711046.1:c.41G>A ENSP00000518556.1:p.Arg14Lys
XM_011518868.1:c.239G>A XP_011517170.1:p.Arg80Lys
XM_011518871.1:c.-60+9907G>A XP_011517173.1:n.-60+9907G>A
XM_011518873.1:c.-250G>A XP_011517175.1:n.-250G>A
XM_011518874.1:c.239G>A XP_011517176.1:p.Arg80Lys