Canonical Allele Identifier: CA196555434

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95508213A>G , CM000671.2:g.95508213A>G	GRCh38
NC_000009.11:g.98270495A>G , CM000671.1:g.98270495A>G	GRCh37
NC_000009.10:g.97310316A>G	NCBI36
NG_007664.1:g.13753T>C , LRG_515:g.13753T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.149T>C MANE Select	NP_000255.2:p.Leu50Pro
ENST00000331920.11:c.149T>C MANE Select	ENSP00000332353.6:p.Leu50Pro
NM_001083603.3:c.199-1614T>C MANE Plus Clinical	NP_001077072.1:n.199-1614T>C
ENST00000437951.6:c.199-1614T>C MANE Plus Clinical	ENSP00000389744.2:n.199-1614T>C
NM_000264.3:c.149T>C , LRG_515t1:c.149T>C	NP_000255.2:p.Leu50Pro
NM_000264.4:c.149T>C	NP_000255.2:p.Leu50Pro
NM_001083602.1:c.4-1614T>C , LRG_515t2:c.4-1614T>C	NP_001077071.1:n.4-1614T>C
NM_001083602.2:c.4-1614T>C	NP_001077071.1:n.4-1614T>C
NM_001083602.3:c.4-1614T>C	NP_001077071.1:n.4-1614T>C
NM_001083603.1:c.199-1614T>C	NP_001077072.1:n.199-1614T>C
NM_001083603.2:c.199-1614T>C	NP_001077072.1:n.199-1614T>C
NM_001354918.1:c.149T>C	NP_001341847.1:p.Leu50Pro
NM_001354918.2:c.149T>C	NP_001341847.1:p.Leu50Pro
NM_001354919.1:c.4-1614T>C	NP_001341848.1:n.4-1614T>C
NM_001354919.2:c.4-1614T>C	NP_001341848.1:n.4-1614T>C
NR_149061.1:n.337T>C
NR_149061.2:n.1054T>C
ENST00000331920.10:c.149T>C	ENSP00000332353.6:p.Leu50Pro
ENST00000375274.6:c.199-1614T>C	ENSP00000364423.2:n.199-1614T>C
ENST00000430669.6:c.4-1614T>C	ENSP00000410287.2:n.4-1614T>C
ENST00000437951.5:c.4-1614T>C	ENSP00000389744.1:n.4-1614T>C
ENST00000468211.6:c.4-1614T>C	ENSP00000449745.1:n.4-1614T>C
ENST00000551425.1:n.190+8256T>C
ENST00000551623.1:c.36+8410T>C	ENSP00000447242.1:n.36+8410T>C
ENST00000711046.1:c.4-1614T>C	ENSP00000518556.1:n.4-1614T>C
XM_011518868.1:c.149T>C	XP_011517170.1:p.Leu50Pro
XM_011518871.1:c.-60+8256T>C	XP_011517173.1:n.-60+8256T>C
XM_011518874.1:c.149T>C	XP_011517176.1:p.Leu50Pro