Canonical Allele Identifier: CA5138816

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95480409G>A , CM000671.2:g.95480409G>A	GRCh38
NC_000009.11:g.98242691G>A , CM000671.1:g.98242691G>A	GRCh37
NC_000009.10:g.97282512G>A	NCBI36
NG_007664.1:g.41557C>T , LRG_515:g.41557C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.926C>T MANE Select	NP_000255.2:p.Pro309Leu
ENST00000331920.11:c.926C>T MANE Select	ENSP00000332353.6:p.Pro309Leu
NM_001083603.3:c.923C>T MANE Plus Clinical	NP_001077072.1:p.Pro308Leu
ENST00000437951.6:c.923C>T MANE Plus Clinical	ENSP00000389744.2:p.Pro308Leu
NM_000264.3:c.926C>T , LRG_515t1:c.926C>T	NP_000255.2:p.Pro309Leu
NM_000264.4:c.926C>T	NP_000255.2:p.Pro309Leu
NM_001083602.1:c.728C>T , LRG_515t2:c.728C>T	NP_001077071.1:p.Pro243Leu
NM_001083602.2:c.728C>T	NP_001077071.1:p.Pro243Leu
NM_001083602.3:c.728C>T	NP_001077071.1:p.Pro243Leu
NM_001083603.1:c.923C>T	NP_001077072.1:p.Pro308Leu
NM_001083603.2:c.923C>T	NP_001077072.1:p.Pro308Leu
NM_001083604.1:c.473C>T	NP_001077073.1:p.Pro158Leu
NM_001083604.2:c.473C>T	NP_001077073.1:p.Pro158Leu
NM_001083604.3:c.473C>T	NP_001077073.1:p.Pro158Leu
NM_001083605.1:c.473C>T	NP_001077074.1:p.Pro158Leu
NM_001083605.2:c.473C>T	NP_001077074.1:p.Pro158Leu
NM_001083605.3:c.473C>T	NP_001077074.1:p.Pro158Leu
NM_001083606.1:c.473C>T	NP_001077075.1:p.Pro158Leu
NM_001083606.2:c.473C>T	NP_001077075.1:p.Pro158Leu
NM_001083606.3:c.473C>T	NP_001077075.1:p.Pro158Leu
NM_001083607.1:c.473C>T	NP_001077076.1:p.Pro158Leu
NM_001083607.2:c.473C>T	NP_001077076.1:p.Pro158Leu
NM_001083607.3:c.473C>T	NP_001077076.1:p.Pro158Leu
NM_001354918.1:c.926C>T	NP_001341847.1:p.Pro309Leu
NM_001354918.2:c.926C>T	NP_001341847.1:p.Pro309Leu
NR_149061.1:n.1114C>T
NR_149061.2:n.1831C>T
ENST00000331920.10:c.926C>T	ENSP00000332353.6:p.Pro309Leu
ENST00000375271.4:c.77C>T	ENSP00000364420.4:p.Pro26Leu
ENST00000375274.6:c.923C>T	ENSP00000364423.2:p.Pro308Leu
ENST00000375290.6:c.563C>T	ENSP00000364439.2:p.Pro188Leu
ENST00000418258.5:c.473C>T	ENSP00000396135.1:p.Pro158Leu
ENST00000421141.5:c.473C>T	ENSP00000399981.1:p.Pro158Leu
ENST00000429896.6:c.473C>T	ENSP00000414823.2:p.Pro158Leu
ENST00000430669.6:c.728C>T	ENSP00000410287.2:p.Pro243Leu
ENST00000437951.5:c.728C>T	ENSP00000389744.1:p.Pro243Leu
ENST00000488809.2:n.47C>T
ENST00000546820.5:c.473C>T	ENSP00000448843.1:p.Pro158Leu
ENST00000547672.5:c.473C>T	ENSP00000447878.1:p.Pro158Leu
ENST00000548420.1:c.86C>T	ENSP00000449078.1:p.Pro29Leu
ENST00000551845.5:c.473C>T	ENSP00000447008.1:p.Pro158Leu
ENST00000553011.5:c.473C>T	ENSP00000447797.1:p.Pro158Leu
ENST00000690194.1:c.473C>T	ENSP00000509379.1:p.Pro158Leu
ENST00000692981.1:c.473C>T	ENSP00000510238.1:p.Pro158Leu
ENST00000711046.1:c.728C>T	ENSP00000518556.1:p.Pro243Leu
XM_005252102.2:c.473C>T	XP_005252159.1:p.Pro158Leu
XM_011518868.1:c.926C>T	XP_011517170.1:p.Pro309Leu
XM_011518869.1:c.473C>T	XP_011517171.1:p.Pro158Leu
XM_011518870.1:c.473C>T	XP_011517172.1:p.Pro158Leu
XM_011518871.1:c.473C>T	XP_011517173.1:p.Pro158Leu
XM_011518872.1:c.473C>T	XP_011517174.1:p.Pro158Leu
XM_011518873.1:c.86C>T	XP_011517175.1:p.Pro29Leu
XM_011518874.1:c.926C>T	XP_011517176.1:p.Pro309Leu