Canonical Allele Identifier: CA5138026

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95447417G>C , CM000671.2:g.95447417G>C	GRCh38
NC_000009.11:g.98209699G>C , CM000671.1:g.98209699G>C	GRCh37
NC_000009.10:g.97249520G>C	NCBI36
NG_007664.1:g.74549C>G , LRG_515:g.74549C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.3839C>G MANE Select	NP_000255.2:p.Ser1280Trp
ENST00000331920.11:c.3839C>G MANE Select	ENSP00000332353.6:p.Ser1280Trp
NM_001083603.3:c.3836C>G MANE Plus Clinical	NP_001077072.1:p.Ser1279Trp
ENST00000437951.6:c.3836C>G MANE Plus Clinical	ENSP00000389744.2:p.Ser1279Trp
NM_000264.3:c.3839C>G , LRG_515t1:c.3839C>G	NP_000255.2:p.Ser1280Trp
NM_000264.4:c.3839C>G	NP_000255.2:p.Ser1280Trp
NM_001083602.1:c.3641C>G , LRG_515t2:c.3641C>G	NP_001077071.1:p.Ser1214Trp
NM_001083602.2:c.3641C>G	NP_001077071.1:p.Ser1214Trp
NM_001083602.3:c.3641C>G	NP_001077071.1:p.Ser1214Trp
NM_001083603.1:c.3836C>G	NP_001077072.1:p.Ser1279Trp
NM_001083603.2:c.3836C>G	NP_001077072.1:p.Ser1279Trp
NM_001083604.1:c.3386C>G	NP_001077073.1:p.Ser1129Trp
NM_001083604.2:c.3386C>G	NP_001077073.1:p.Ser1129Trp
NM_001083604.3:c.3386C>G	NP_001077073.1:p.Ser1129Trp
NM_001083605.1:c.3386C>G	NP_001077074.1:p.Ser1129Trp
NM_001083605.2:c.3386C>G	NP_001077074.1:p.Ser1129Trp
NM_001083605.3:c.3386C>G	NP_001077074.1:p.Ser1129Trp
NM_001083606.1:c.3386C>G	NP_001077075.1:p.Ser1129Trp
NM_001083606.2:c.3386C>G	NP_001077075.1:p.Ser1129Trp
NM_001083606.3:c.3386C>G	NP_001077075.1:p.Ser1129Trp
NM_001083607.1:c.3386C>G	NP_001077076.1:p.Ser1129Trp
NM_001083607.2:c.3386C>G	NP_001077076.1:p.Ser1129Trp
NM_001083607.3:c.3386C>G	NP_001077076.1:p.Ser1129Trp
NM_001354918.1:c.3683C>G	NP_001341847.1:p.Ser1228Trp
NM_001354918.2:c.3683C>G	NP_001341847.1:p.Ser1228Trp
NR_149061.1:n.3861C>G
NR_149061.2:n.4578C>G
ENST00000331920.10:c.3839C>G	ENSP00000332353.6:p.Ser1280Trp
ENST00000375274.6:c.3836C>G	ENSP00000364423.2:p.Ser1279Trp
ENST00000375290.6:c.7145C>G	ENSP00000364439.2:n.7145C>G
ENST00000418258.5:c.3386C>G	ENSP00000396135.1:p.Ser1129Trp
ENST00000421141.5:c.3386C>G	ENSP00000399981.1:p.Ser1129Trp
ENST00000429896.6:c.3386C>G	ENSP00000414823.2:p.Ser1129Trp
ENST00000430669.6:c.3641C>G	ENSP00000410287.2:p.Ser1214Trp
ENST00000437951.5:c.3641C>G	ENSP00000389744.1:p.Ser1214Trp
ENST00000546744.5:n.903C>G
ENST00000687744.1:n.2036C>G
ENST00000690194.1:c.*2147C>G	ENSP00000509379.1:n.*2147C>G
ENST00000692981.1:c.3386C>G	ENSP00000510238.1:p.Ser1129Trp
ENST00000693534.1:n.1186C>G
ENST00000711046.1:c.3641C>G	ENSP00000518556.1:p.Ser1214Trp
XM_005252102.2:c.3386C>G	XP_005252159.1:p.Ser1129Trp
XM_011518868.1:c.3683C>G	XP_011517170.1:p.Ser1228Trp
XM_011518869.1:c.3386C>G	XP_011517171.1:p.Ser1129Trp
XM_011518870.1:c.3386C>G	XP_011517172.1:p.Ser1129Trp
XM_011518871.1:c.3386C>G	XP_011517173.1:p.Ser1129Trp
XM_011518872.1:c.3386C>G	XP_011517174.1:p.Ser1129Trp
XM_011518873.1:c.2999C>G	XP_011517175.1:p.Ser1000Trp