Canonical Allele Identifier: CA337135

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95508216T>C , CM000671.2:g.95508216T>C	GRCh38
NC_000009.11:g.98270498T>C , CM000671.1:g.98270498T>C	GRCh37
NC_000009.10:g.97310319T>C	NCBI36
NG_007664.1:g.13750A>G , LRG_515:g.13750A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.146A>G MANE Select	NP_000255.2:p.Tyr49Cys
ENST00000331920.11:c.146A>G MANE Select	ENSP00000332353.6:p.Tyr49Cys
NM_001083603.3:c.199-1617A>G MANE Plus Clinical	NP_001077072.1:n.199-1617A>G
ENST00000437951.6:c.199-1617A>G MANE Plus Clinical	ENSP00000389744.2:n.199-1617A>G
NM_000264.3:c.146A>G , LRG_515t1:c.146A>G	NP_000255.2:p.Tyr49Cys
NM_000264.4:c.146A>G	NP_000255.2:p.Tyr49Cys
NM_001083602.1:c.4-1617A>G , LRG_515t2:c.4-1617A>G	NP_001077071.1:n.4-1617A>G
NM_001083602.2:c.4-1617A>G	NP_001077071.1:n.4-1617A>G
NM_001083602.3:c.4-1617A>G	NP_001077071.1:n.4-1617A>G
NM_001083603.1:c.199-1617A>G	NP_001077072.1:n.199-1617A>G
NM_001083603.2:c.199-1617A>G	NP_001077072.1:n.199-1617A>G
NM_001354918.1:c.146A>G	NP_001341847.1:p.Tyr49Cys
NM_001354918.2:c.146A>G	NP_001341847.1:p.Tyr49Cys
NM_001354919.1:c.4-1617A>G	NP_001341848.1:n.4-1617A>G
NM_001354919.2:c.4-1617A>G	NP_001341848.1:n.4-1617A>G
NR_149061.1:n.334A>G
NR_149061.2:n.1051A>G
ENST00000331920.10:c.146A>G	ENSP00000332353.6:p.Tyr49Cys
ENST00000375274.6:c.199-1617A>G	ENSP00000364423.2:n.199-1617A>G
ENST00000430669.6:c.4-1617A>G	ENSP00000410287.2:n.4-1617A>G
ENST00000437951.5:c.4-1617A>G	ENSP00000389744.1:n.4-1617A>G
ENST00000468211.6:c.4-1617A>G	ENSP00000449745.1:n.4-1617A>G
ENST00000551425.1:n.190+8253A>G
ENST00000551623.1:c.36+8407A>G	ENSP00000447242.1:n.36+8407A>G
ENST00000711046.1:c.4-1617A>G	ENSP00000518556.1:n.4-1617A>G
XM_011518868.1:c.146A>G	XP_011517170.1:p.Tyr49Cys
XM_011518871.1:c.-60+8253A>G	XP_011517173.1:n.-60+8253A>G
XM_011518874.1:c.146A>G	XP_011517176.1:p.Tyr49Cys