Canonical Allele Identifier: CA374120289

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95506484A>C , CM000671.2:g.95506484A>C	GRCh38
NC_000009.11:g.98268766A>C , CM000671.1:g.98268766A>C	GRCh37
NC_000009.10:g.97308587A>C	NCBI36
NG_007664.1:g.15482T>G , LRG_515:g.15482T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.317T>G MANE Select	NP_000255.2:p.Leu106Arg
ENST00000331920.11:c.317T>G MANE Select	ENSP00000332353.6:p.Leu106Arg
NM_001083603.3:c.314T>G MANE Plus Clinical	NP_001077072.1:p.Leu105Arg
ENST00000437951.6:c.314T>G MANE Plus Clinical	ENSP00000389744.2:p.Leu105Arg
NM_000264.3:c.317T>G , LRG_515t1:c.317T>G	NP_000255.2:p.Leu106Arg
NM_000264.4:c.317T>G	NP_000255.2:p.Leu106Arg
NM_001083602.1:c.119T>G , LRG_515t2:c.119T>G	NP_001077071.1:p.Leu40Arg
NM_001083602.2:c.119T>G	NP_001077071.1:p.Leu40Arg
NM_001083602.3:c.119T>G	NP_001077071.1:p.Leu40Arg
NM_001083603.1:c.314T>G	NP_001077072.1:p.Leu105Arg
NM_001083603.2:c.314T>G	NP_001077072.1:p.Leu105Arg
NM_001083604.1:c.-137T>G	NP_001077073.1:n.-137T>G
NM_001083604.2:c.-137T>G	NP_001077073.1:n.-137T>G
NM_001083604.3:c.-137T>G	NP_001077073.1:n.-137T>G
NM_001083605.1:c.-137T>G	NP_001077074.1:n.-137T>G
NM_001083605.2:c.-137T>G	NP_001077074.1:n.-137T>G
NM_001083605.3:c.-137T>G	NP_001077074.1:n.-137T>G
NM_001083606.1:c.-137T>G	NP_001077075.1:n.-137T>G
NM_001083606.2:c.-137T>G	NP_001077075.1:n.-137T>G
NM_001083606.3:c.-137T>G	NP_001077075.1:n.-137T>G
NM_001083607.1:c.-137T>G	NP_001077076.1:n.-137T>G
NM_001083607.2:c.-137T>G	NP_001077076.1:n.-137T>G
NM_001083607.3:c.-137T>G	NP_001077076.1:n.-137T>G
NM_001354918.1:c.317T>G	NP_001341847.1:p.Leu106Arg
NM_001354918.2:c.317T>G	NP_001341847.1:p.Leu106Arg
NM_001354919.1:c.119T>G	NP_001341848.1:p.Leu40Arg
NM_001354919.2:c.119T>G	NP_001341848.1:p.Leu40Arg
NR_149061.1:n.505T>G
NR_149061.2:n.1222T>G
ENST00000331920.10:c.317T>G	ENSP00000332353.6:p.Leu106Arg
ENST00000375274.6:c.314T>G	ENSP00000364423.2:p.Leu105Arg
ENST00000375290.6:c.116T>G	ENSP00000364439.2:p.Leu39Arg
ENST00000418258.5:c.-137T>G	ENSP00000396135.1:n.-137T>G
ENST00000421141.5:c.-137T>G	ENSP00000399981.1:n.-137T>G
ENST00000429896.6:c.-137T>G	ENSP00000414823.2:n.-137T>G
ENST00000430669.6:c.119T>G	ENSP00000410287.2:p.Leu40Arg
ENST00000437951.5:c.119T>G	ENSP00000389744.1:p.Leu40Arg
ENST00000468211.6:c.119T>G	ENSP00000449745.1:p.Leu40Arg
ENST00000546820.5:c.-137T>G	ENSP00000448843.1:n.-137T>G
ENST00000547672.5:c.-137T>G	ENSP00000447878.1:n.-137T>G
ENST00000548420.1:c.-172T>G	ENSP00000449078.1:n.-172T>G
ENST00000548945.6:n.116T>G
ENST00000550914.6:c.-137T>G	ENSP00000450047.1:n.-137T>G
ENST00000551425.1:n.190+9985T>G
ENST00000551623.1:c.36+10139T>G	ENSP00000447242.1:n.36+10139T>G
ENST00000551630.1:c.-137T>G	ENSP00000450131.1:n.-137T>G
ENST00000551845.5:c.-137T>G	ENSP00000447008.1:n.-137T>G
ENST00000553011.5:c.-137T>G	ENSP00000447797.1:n.-137T>G
ENST00000711046.1:c.119T>G	ENSP00000518556.1:p.Leu40Arg
XM_011518868.1:c.317T>G	XP_011517170.1:p.Leu106Arg
XM_011518871.1:c.-60+9985T>G	XP_011517173.1:n.-60+9985T>G
XM_011518873.1:c.-172T>G	XP_011517175.1:n.-172T>G
XM_011518874.1:c.317T>G	XP_011517176.1:p.Leu106Arg