Canonical Allele Identifier: CA466122839

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 1577045
• ClinVar RCV Id: RCV002087784
• dbSNP Id: rs2118368238
• MyVariant Identifiers: chr9:g.98241419G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479137G>A , CM000671.2:g.95479137G>A	GRCh38
NC_000009.11:g.98241419G>A , CM000671.1:g.98241419G>A	GRCh37
NC_000009.10:g.97281240G>A	NCBI36
NG_007664.1:g.42829C>T , LRG_515:g.42829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.880C>T	ENSP00000518556.1:p.Leu294=
ENST00000437951.6:c.1075C>T MANE Plus Clinical	ENSP00000389744.2:p.Leu359=
ENST00000690194.1:c.625C>T	ENSP00000509379.1:p.Leu209=
ENST00000692981.1:c.625C>T	ENSP00000510238.1:p.Leu209=
ENST00000331920.11:c.1078C>T MANE Select	ENSP00000332353.6:p.Leu360=
ENST00000331920.10:c.1078C>T	ENSP00000332353.6:p.Leu360=
ENST00000375271.4:c.229C>T	ENSP00000364420.4:p.Leu77=
ENST00000375274.6:c.1075C>T	ENSP00000364423.2:p.Leu359=
ENST00000375290.6:c.715C>T	ENSP00000364439.2:p.Leu239=
ENST00000418258.5:c.625C>T	ENSP00000396135.1:p.Leu209=
ENST00000421141.5:c.625C>T	ENSP00000399981.1:p.Leu209=
ENST00000429896.6:c.625C>T	ENSP00000414823.2:p.Leu209=
ENST00000430669.6:c.880C>T	ENSP00000410287.2:p.Leu294=
ENST00000437951.5:c.880C>T	ENSP00000389744.1:p.Leu294=
NM_000264.3:c.1078C>T , LRG_515t1:c.1078C>T	NP_000255.2:p.Leu360=
NM_001083602.1:c.880C>T , LRG_515t2:c.880C>T	NP_001077071.1:p.Leu294=
NM_001083603.1:c.1075C>T	NP_001077072.1:p.Leu359=
NM_001083604.1:c.625C>T	NP_001077073.1:p.Leu209=
NM_001083605.1:c.625C>T	NP_001077074.1:p.Leu209=
NM_001083606.1:c.625C>T	NP_001077075.1:p.Leu209=
NM_001083607.1:c.625C>T	NP_001077076.1:p.Leu209=
XM_005252102.2:c.625C>T	XP_005252159.1:p.Leu209=
XM_011518868.1:c.1078C>T	XP_011517170.1:p.Leu360=
XM_011518869.1:c.625C>T	XP_011517171.1:p.Leu209=
XM_011518870.1:c.625C>T	XP_011517172.1:p.Leu209=
XM_011518871.1:c.625C>T	XP_011517173.1:p.Leu209=
XM_011518872.1:c.625C>T	XP_011517174.1:p.Leu209=
XM_011518873.1:c.238C>T	XP_011517175.1:p.Leu80=
XM_011518874.1:c.1078C>T	XP_011517176.1:p.Leu360=
NM_000264.4:c.1078C>T	NP_000255.2:p.Leu360=
NM_001083602.2:c.880C>T	NP_001077071.1:p.Leu294=
NM_001083603.2:c.1075C>T	NP_001077072.1:p.Leu359=
NM_001083604.2:c.625C>T	NP_001077073.1:p.Leu209=
NM_001083605.2:c.625C>T	NP_001077074.1:p.Leu209=
NM_001083606.2:c.625C>T	NP_001077075.1:p.Leu209=
NM_001083607.2:c.625C>T	NP_001077076.1:p.Leu209=
NM_001354918.1:c.1078C>T	NP_001341847.1:p.Leu360=
NR_149061.1:n.1266C>T
NM_000264.5:c.1078C>T MANE Select	NP_000255.2:p.Leu360=
NM_001083606.3:c.625C>T	NP_001077075.1:p.Leu209=
NM_001354918.2:c.1078C>T	NP_001341847.1:p.Leu360=
NR_149061.2:n.1983C>T
NM_001083602.3:c.880C>T	NP_001077071.1:p.Leu294=
NM_001083603.3:c.1075C>T MANE Plus Clinical	NP_001077072.1:p.Leu359=
NM_001083604.3:c.625C>T	NP_001077073.1:p.Leu209=
NM_001083605.3:c.625C>T	NP_001077074.1:p.Leu209=
NM_001083607.3:c.625C>T	NP_001077076.1:p.Leu209=