Canonical Allele Identifier: CA374112284

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 573312
• ClinVar RCV Id: RCV000694954 ; RCV001018810
• dbSNP Id: rs1420175816
• gnomAD v2: 9-98220314-G-A
• gnomAD v3: 9-95458032-G-A
• gnomAD v4: 9-95458032-G-A
• MyVariant Identifiers: chr9:g.98220314G>A (hg19) ; chr9:g.95458032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95458032G>A , CM000671.2:g.95458032G>A	GRCh38
NC_000009.11:g.98220314G>A , CM000671.1:g.98220314G>A	GRCh37
NC_000009.10:g.97260135G>A	NCBI36
NG_007664.1:g.63934C>T , LRG_515:g.63934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.2951C>T	ENSP00000518556.1:p.Pro984Leu
ENST00000437951.6:c.3146C>T MANE Plus Clinical	ENSP00000389744.2:p.Pro1049Leu
ENST00000690194.1:c.*1457C>T	ENSP00000509379.1:n.*1457C>T
ENST00000692981.1:c.2696C>T	ENSP00000510238.1:p.Pro899Leu
ENST00000693534.1:n.480C>T
ENST00000331920.11:c.3149C>T MANE Select	ENSP00000332353.6:p.Pro1050Leu
ENST00000331920.10:c.3149C>T	ENSP00000332353.6:p.Pro1050Leu
ENST00000375274.6:c.3146C>T	ENSP00000364423.2:p.Pro1049Leu
ENST00000375290.6:c.2918C>T	ENSP00000364439.2:n.2918C>T
ENST00000418258.5:c.2696C>T	ENSP00000396135.1:p.Pro899Leu
ENST00000421141.5:c.2696C>T	ENSP00000399981.1:p.Pro899Leu
ENST00000429896.6:c.2696C>T	ENSP00000414823.2:p.Pro899Leu
ENST00000430669.6:c.2951C>T	ENSP00000410287.2:p.Pro984Leu
ENST00000437951.5:c.2951C>T	ENSP00000389744.1:p.Pro984Leu
ENST00000547615.1:n.499C>T
NM_000264.3:c.3149C>T , LRG_515t1:c.3149C>T	NP_000255.2:p.Pro1050Leu
NM_001083602.1:c.2951C>T , LRG_515t2:c.2951C>T	NP_001077071.1:p.Pro984Leu
NM_001083603.1:c.3146C>T	NP_001077072.1:p.Pro1049Leu
NM_001083604.1:c.2696C>T	NP_001077073.1:p.Pro899Leu
NM_001083605.1:c.2696C>T	NP_001077074.1:p.Pro899Leu
NM_001083606.1:c.2696C>T	NP_001077075.1:p.Pro899Leu
NM_001083607.1:c.2696C>T	NP_001077076.1:p.Pro899Leu
XM_005252102.2:c.2696C>T	XP_005252159.1:p.Pro899Leu
XM_011518868.1:c.2993C>T	XP_011517170.1:p.Pro998Leu
XM_011518869.1:c.2696C>T	XP_011517171.1:p.Pro899Leu
XM_011518870.1:c.2696C>T	XP_011517172.1:p.Pro899Leu
XM_011518871.1:c.2696C>T	XP_011517173.1:p.Pro899Leu
XM_011518872.1:c.2696C>T	XP_011517174.1:p.Pro899Leu
XM_011518873.1:c.2309C>T	XP_011517175.1:p.Pro770Leu
XM_011518874.1:c.3149C>T	XP_011517176.1:p.Pro1050Leu
NM_000264.4:c.3149C>T	NP_000255.2:p.Pro1050Leu
NM_001083602.2:c.2951C>T	NP_001077071.1:p.Pro984Leu
NM_001083603.2:c.3146C>T	NP_001077072.1:p.Pro1049Leu
NM_001083604.2:c.2696C>T	NP_001077073.1:p.Pro899Leu
NM_001083605.2:c.2696C>T	NP_001077074.1:p.Pro899Leu
NM_001083606.2:c.2696C>T	NP_001077075.1:p.Pro899Leu
NM_001083607.2:c.2696C>T	NP_001077076.1:p.Pro899Leu
NM_001354918.1:c.2993C>T	NP_001341847.1:p.Pro998Leu
NR_149061.1:n.3171C>T
NM_000264.5:c.3149C>T MANE Select	NP_000255.2:p.Pro1050Leu
NM_001083606.3:c.2696C>T	NP_001077075.1:p.Pro899Leu
NM_001354918.2:c.2993C>T	NP_001341847.1:p.Pro998Leu
NR_149061.2:n.3888C>T
NM_001083602.3:c.2951C>T	NP_001077071.1:p.Pro984Leu
NM_001083603.3:c.3146C>T MANE Plus Clinical	NP_001077072.1:p.Pro1049Leu
NM_001083604.3:c.2696C>T	NP_001077073.1:p.Pro899Leu
NM_001083605.3:c.2696C>T	NP_001077074.1:p.Pro899Leu
NM_001083607.3:c.2696C>T	NP_001077076.1:p.Pro899Leu