Canonical Allele Identifier: CA5139095

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95516664C>G , CM000671.2:g.95516664C>G	GRCh38
NC_000009.11:g.98278946C>G , CM000671.1:g.98278946C>G	GRCh37
NC_000009.10:g.97318767C>G	NCBI36
NG_007664.1:g.5302G>C , LRG_515:g.5302G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001083603.3:c.157G>C MANE Plus Clinical	NP_001077072.1:p.Glu53Gln
ENST00000437951.6:c.157G>C MANE Plus Clinical	ENSP00000389744.2:p.Glu53Gln
NM_001083602.1:c.-193G>C , LRG_515t2:c.-193G>C	NP_001077071.1:n.-193G>C
NM_001083602.2:c.-193G>C	NP_001077071.1:n.-193G>C
NM_001083602.3:c.-193G>C	NP_001077071.1:n.-193G>C
NM_001083603.1:c.157G>C	NP_001077072.1:p.Glu53Gln
NM_001083603.2:c.157G>C	NP_001077072.1:p.Glu53Gln
NM_001354919.1:c.-193G>C	NP_001341848.1:n.-193G>C
NM_001354919.2:c.-193G>C	NP_001341848.1:n.-193G>C
ENST00000375274.6:c.157G>C	ENSP00000364423.2:p.Glu53Gln
ENST00000430669.6:c.-193G>C	ENSP00000410287.2:n.-193G>C
ENST00000437951.5:c.-193G>C	ENSP00000389744.1:n.-193G>C
ENST00000468211.6:c.-193G>C	ENSP00000449745.1:n.-193G>C
ENST00000711046.1:c.-193G>C	ENSP00000518556.1:n.-193G>C