Canonical Allele Identifier: CA5138447

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95468899C>A , CM000671.2:g.95468899C>A	GRCh38
NC_000009.11:g.98231181C>A , CM000671.1:g.98231181C>A	GRCh37
NC_000009.10:g.97271002C>A	NCBI36
NG_007664.1:g.53067G>T , LRG_515:g.53067G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.2102G>T MANE Select	NP_000255.2:p.Ser701Ile
ENST00000331920.11:c.2102G>T MANE Select	ENSP00000332353.6:p.Ser701Ile
NM_001083603.3:c.2099G>T MANE Plus Clinical	NP_001077072.1:p.Ser700Ile
ENST00000437951.6:c.2099G>T MANE Plus Clinical	ENSP00000389744.2:p.Ser700Ile
NM_000264.3:c.2102G>T , LRG_515t1:c.2102G>T	NP_000255.2:p.Ser701Ile
NM_000264.4:c.2102G>T	NP_000255.2:p.Ser701Ile
NM_001083602.1:c.1904G>T , LRG_515t2:c.1904G>T	NP_001077071.1:p.Ser635Ile
NM_001083602.2:c.1904G>T	NP_001077071.1:p.Ser635Ile
NM_001083602.3:c.1904G>T	NP_001077071.1:p.Ser635Ile
NM_001083603.1:c.2099G>T	NP_001077072.1:p.Ser700Ile
NM_001083603.2:c.2099G>T	NP_001077072.1:p.Ser700Ile
NM_001083604.1:c.1649G>T	NP_001077073.1:p.Ser550Ile
NM_001083604.2:c.1649G>T	NP_001077073.1:p.Ser550Ile
NM_001083604.3:c.1649G>T	NP_001077073.1:p.Ser550Ile
NM_001083605.1:c.1649G>T	NP_001077074.1:p.Ser550Ile
NM_001083605.2:c.1649G>T	NP_001077074.1:p.Ser550Ile
NM_001083605.3:c.1649G>T	NP_001077074.1:p.Ser550Ile
NM_001083606.1:c.1649G>T	NP_001077075.1:p.Ser550Ile
NM_001083606.2:c.1649G>T	NP_001077075.1:p.Ser550Ile
NM_001083606.3:c.1649G>T	NP_001077075.1:p.Ser550Ile
NM_001083607.1:c.1649G>T	NP_001077076.1:p.Ser550Ile
NM_001083607.2:c.1649G>T	NP_001077076.1:p.Ser550Ile
NM_001083607.3:c.1649G>T	NP_001077076.1:p.Ser550Ile
NM_001354918.1:c.1946G>T	NP_001341847.1:p.Ser649Ile
NM_001354918.2:c.1946G>T	NP_001341847.1:p.Ser649Ile
NR_038982.1:n.837C>A
NR_149061.1:n.2290G>T
NR_149061.2:n.3007G>T
ENST00000331920.10:c.2102G>T	ENSP00000332353.6:p.Ser701Ile
ENST00000375274.6:c.2099G>T	ENSP00000364423.2:p.Ser700Ile
ENST00000375290.6:c.1871G>T	ENSP00000364439.2:n.1871G>T
ENST00000418258.5:c.1649G>T	ENSP00000396135.1:p.Ser550Ile
ENST00000421141.5:c.1649G>T	ENSP00000399981.1:p.Ser550Ile
ENST00000429896.6:c.1649G>T	ENSP00000414823.2:p.Ser550Ile
ENST00000430669.6:c.1904G>T	ENSP00000410287.2:p.Ser635Ile
ENST00000437951.5:c.1904G>T	ENSP00000389744.1:p.Ser635Ile
ENST00000549678.1:n.291G>T
ENST00000690194.1:c.*410G>T	ENSP00000509379.1:n.*410G>T
ENST00000692981.1:c.1649G>T	ENSP00000510238.1:p.Ser550Ile
ENST00000711046.1:c.1904G>T	ENSP00000518556.1:p.Ser635Ile
XM_005252102.2:c.1649G>T	XP_005252159.1:p.Ser550Ile
XM_011518868.1:c.1946G>T	XP_011517170.1:p.Ser649Ile
XM_011518869.1:c.1649G>T	XP_011517171.1:p.Ser550Ile
XM_011518870.1:c.1649G>T	XP_011517172.1:p.Ser550Ile
XM_011518871.1:c.1649G>T	XP_011517173.1:p.Ser550Ile
XM_011518872.1:c.1649G>T	XP_011517174.1:p.Ser550Ile
XM_011518873.1:c.1262G>T	XP_011517175.1:p.Ser421Ile
XM_011518874.1:c.2102G>T	XP_011517176.1:p.Ser701Ile