Canonical Allele Identifier: CA374114313

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 453823
• ClinVar RCV Id: RCV000544815 ; RCV002448594 ; RCV002481742
• dbSNP Id: rs1554694376
• gnomAD v4: 9-95467268-A-G
• MyVariant Identifiers: chr9:g.98229550A>G (hg19) ; chr9:g.95467268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95467268A>G , CM000671.2:g.95467268A>G	GRCh38
NC_000009.11:g.98229550A>G , CM000671.1:g.98229550A>G	GRCh37
NC_000009.10:g.97269371A>G	NCBI36
NG_007664.1:g.54698T>C , LRG_515:g.54698T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.2210T>C	ENSP00000518556.1:p.Met737Thr
ENST00000437951.6:c.2405T>C MANE Plus Clinical	ENSP00000389744.2:p.Met802Thr
ENST00000690194.1:c.*716T>C	ENSP00000509379.1:n.*716T>C
ENST00000692981.1:c.1955T>C	ENSP00000510238.1:p.Met652Thr
ENST00000331920.11:c.2408T>C MANE Select	ENSP00000332353.6:p.Met803Thr
ENST00000331920.10:c.2408T>C	ENSP00000332353.6:p.Met803Thr
ENST00000375274.6:c.2405T>C	ENSP00000364423.2:p.Met802Thr
ENST00000375290.6:c.2177T>C	ENSP00000364439.2:n.2177T>C
ENST00000418258.5:c.1955T>C	ENSP00000396135.1:p.Met652Thr
ENST00000421141.5:c.1955T>C	ENSP00000399981.1:p.Met652Thr
ENST00000429896.6:c.1955T>C	ENSP00000414823.2:p.Met652Thr
ENST00000430669.6:c.2210T>C	ENSP00000410287.2:p.Met737Thr
ENST00000437951.5:c.2210T>C	ENSP00000389744.1:p.Met737Thr
NM_000264.3:c.2408T>C , LRG_515t1:c.2408T>C	NP_000255.2:p.Met803Thr
NM_001083602.1:c.2210T>C , LRG_515t2:c.2210T>C	NP_001077071.1:p.Met737Thr
NM_001083603.1:c.2405T>C	NP_001077072.1:p.Met802Thr
NM_001083604.1:c.1955T>C	NP_001077073.1:p.Met652Thr
NM_001083605.1:c.1955T>C	NP_001077074.1:p.Met652Thr
NM_001083606.1:c.1955T>C	NP_001077075.1:p.Met652Thr
NM_001083607.1:c.1955T>C	NP_001077076.1:p.Met652Thr
NR_038982.1:n.481+48A>G
XM_005252102.2:c.1955T>C	XP_005252159.1:p.Met652Thr
XM_011518868.1:c.2252T>C	XP_011517170.1:p.Met751Thr
XM_011518869.1:c.1955T>C	XP_011517171.1:p.Met652Thr
XM_011518870.1:c.1955T>C	XP_011517172.1:p.Met652Thr
XM_011518871.1:c.1955T>C	XP_011517173.1:p.Met652Thr
XM_011518872.1:c.1955T>C	XP_011517174.1:p.Met652Thr
XM_011518873.1:c.1568T>C	XP_011517175.1:p.Met523Thr
XM_011518874.1:c.2408T>C	XP_011517176.1:p.Met803Thr
NM_000264.4:c.2408T>C	NP_000255.2:p.Met803Thr
NM_001083602.2:c.2210T>C	NP_001077071.1:p.Met737Thr
NM_001083603.2:c.2405T>C	NP_001077072.1:p.Met802Thr
NM_001083604.2:c.1955T>C	NP_001077073.1:p.Met652Thr
NM_001083605.2:c.1955T>C	NP_001077074.1:p.Met652Thr
NM_001083606.2:c.1955T>C	NP_001077075.1:p.Met652Thr
NM_001083607.2:c.1955T>C	NP_001077076.1:p.Met652Thr
NM_001354918.1:c.2252T>C	NP_001341847.1:p.Met751Thr
NR_149061.1:n.2439-9T>C
NM_000264.5:c.2408T>C MANE Select	NP_000255.2:p.Met803Thr
NM_001083606.3:c.1955T>C	NP_001077075.1:p.Met652Thr
NM_001354918.2:c.2252T>C	NP_001341847.1:p.Met751Thr
NR_149061.2:n.3156-9T>C
NM_001083602.3:c.2210T>C	NP_001077071.1:p.Met737Thr
NM_001083603.3:c.2405T>C MANE Plus Clinical	NP_001077072.1:p.Met802Thr
NM_001083604.3:c.1955T>C	NP_001077073.1:p.Met652Thr
NM_001083605.3:c.1955T>C	NP_001077074.1:p.Met652Thr
NM_001083607.3:c.1955T>C	NP_001077076.1:p.Met652Thr