Canonical Allele Identifier: CA374124495

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95516728G>C , CM000671.2:g.95516728G>C	GRCh38
NC_000009.11:g.98279010G>C , CM000671.1:g.98279010G>C	GRCh37
NC_000009.10:g.97318831G>C	NCBI36
NG_007664.1:g.5238C>G , LRG_515:g.5238C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001083603.3:c.93C>G MANE Plus Clinical	NP_001077072.1:p.Tyr31Ter
ENST00000437951.6:c.93C>G MANE Plus Clinical	ENSP00000389744.2:p.Tyr31Ter
NM_001083602.1:c.-257C>G , LRG_515t2:c.-257C>G	NP_001077071.1:n.-257C>G
NM_001083602.2:c.-257C>G	NP_001077071.1:n.-257C>G
NM_001083602.3:c.-257C>G	NP_001077071.1:n.-257C>G
NM_001083603.1:c.93C>G	NP_001077072.1:p.Tyr31Ter
NM_001083603.2:c.93C>G	NP_001077072.1:p.Tyr31Ter
NM_001354919.1:c.-257C>G	NP_001341848.1:n.-257C>G
NM_001354919.2:c.-257C>G	NP_001341848.1:n.-257C>G
ENST00000375274.6:c.93C>G	ENSP00000364423.2:p.Tyr31Ter
ENST00000430669.6:c.-257C>G	ENSP00000410287.2:n.-257C>G
ENST00000437951.5:c.-257C>G	ENSP00000389744.1:n.-257C>G
ENST00000468211.6:c.-257C>G	ENSP00000449745.1:n.-257C>G
ENST00000711046.1:c.-257C>G	ENSP00000518556.1:n.-257C>G