Canonical Allele Identifier: CA374114113

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95467223A>C , CM000671.2:g.95467223A>C	GRCh38
NC_000009.11:g.98229505A>C , CM000671.1:g.98229505A>C	GRCh37
NC_000009.10:g.97269326A>C	NCBI36
NG_007664.1:g.54743T>G , LRG_515:g.54743T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.2453T>G MANE Select	NP_000255.2:p.Leu818Ter
ENST00000331920.11:c.2453T>G MANE Select	ENSP00000332353.6:p.Leu818Ter
NM_001083603.3:c.2450T>G MANE Plus Clinical	NP_001077072.1:p.Leu817Ter
ENST00000437951.6:c.2450T>G MANE Plus Clinical	ENSP00000389744.2:p.Leu817Ter
NM_000264.3:c.2453T>G , LRG_515t1:c.2453T>G	NP_000255.2:p.Leu818Ter
NM_000264.4:c.2453T>G	NP_000255.2:p.Leu818Ter
NM_001083602.1:c.2255T>G , LRG_515t2:c.2255T>G	NP_001077071.1:p.Leu752Ter
NM_001083602.2:c.2255T>G	NP_001077071.1:p.Leu752Ter
NM_001083602.3:c.2255T>G	NP_001077071.1:p.Leu752Ter
NM_001083603.1:c.2450T>G	NP_001077072.1:p.Leu817Ter
NM_001083603.2:c.2450T>G	NP_001077072.1:p.Leu817Ter
NM_001083604.1:c.2000T>G	NP_001077073.1:p.Leu667Ter
NM_001083604.2:c.2000T>G	NP_001077073.1:p.Leu667Ter
NM_001083604.3:c.2000T>G	NP_001077073.1:p.Leu667Ter
NM_001083605.1:c.2000T>G	NP_001077074.1:p.Leu667Ter
NM_001083605.2:c.2000T>G	NP_001077074.1:p.Leu667Ter
NM_001083605.3:c.2000T>G	NP_001077074.1:p.Leu667Ter
NM_001083606.1:c.2000T>G	NP_001077075.1:p.Leu667Ter
NM_001083606.2:c.2000T>G	NP_001077075.1:p.Leu667Ter
NM_001083606.3:c.2000T>G	NP_001077075.1:p.Leu667Ter
NM_001083607.1:c.2000T>G	NP_001077076.1:p.Leu667Ter
NM_001083607.2:c.2000T>G	NP_001077076.1:p.Leu667Ter
NM_001083607.3:c.2000T>G	NP_001077076.1:p.Leu667Ter
NM_001354918.1:c.2297T>G	NP_001341847.1:p.Leu766Ter
NM_001354918.2:c.2297T>G	NP_001341847.1:p.Leu766Ter
NR_038982.1:n.481+3A>C
NR_149061.1:n.2475T>G
NR_149061.2:n.3192T>G
ENST00000331920.10:c.2453T>G	ENSP00000332353.6:p.Leu818Ter
ENST00000375274.6:c.2450T>G	ENSP00000364423.2:p.Leu817Ter
ENST00000375290.6:c.2222T>G	ENSP00000364439.2:n.2222T>G
ENST00000418258.5:c.2000T>G	ENSP00000396135.1:p.Leu667Ter
ENST00000421141.5:c.2000T>G	ENSP00000399981.1:p.Leu667Ter
ENST00000429896.6:c.2000T>G	ENSP00000414823.2:p.Leu667Ter
ENST00000430669.6:c.2255T>G	ENSP00000410287.2:p.Leu752Ter
ENST00000437951.5:c.2255T>G	ENSP00000389744.1:p.Leu752Ter
ENST00000690194.1:c.*761T>G	ENSP00000509379.1:n.*761T>G
ENST00000692981.1:c.2000T>G	ENSP00000510238.1:p.Leu667Ter
ENST00000711046.1:c.2255T>G	ENSP00000518556.1:p.Leu752Ter
XM_005252102.2:c.2000T>G	XP_005252159.1:p.Leu667Ter
XM_011518868.1:c.2297T>G	XP_011517170.1:p.Leu766Ter
XM_011518869.1:c.2000T>G	XP_011517171.1:p.Leu667Ter
XM_011518870.1:c.2000T>G	XP_011517172.1:p.Leu667Ter
XM_011518871.1:c.2000T>G	XP_011517173.1:p.Leu667Ter
XM_011518872.1:c.2000T>G	XP_011517174.1:p.Leu667Ter
XM_011518873.1:c.1613T>G	XP_011517175.1:p.Leu538Ter
XM_011518874.1:c.2453T>G	XP_011517176.1:p.Leu818Ter