Canonical Allele Identifier: CA374119237

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 854277
• ClinVar RCV Id: RCV001059293 ; RCV002348432
• dbSNP Id: rs1277111019
• gnomAD v2: 9-98241297-C-A
• gnomAD v3: 9-95479015-C-A
• gnomAD v4: 9-95479015-C-A
• MyVariant Identifiers: chr9:g.98241297C>A (hg19) ; chr9:g.95479015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479015C>A , CM000671.2:g.95479015C>A	GRCh38
NC_000009.11:g.98241297C>A , CM000671.1:g.98241297C>A	GRCh37
NC_000009.10:g.97281118C>A	NCBI36
NG_007664.1:g.42951G>T , LRG_515:g.42951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.1002G>T	ENSP00000518556.1:p.Gln334His
ENST00000437951.6:c.1197G>T MANE Plus Clinical	ENSP00000389744.2:p.Gln399His
ENST00000690194.1:c.747G>T	ENSP00000509379.1:p.Gln249His
ENST00000692981.1:c.747G>T	ENSP00000510238.1:p.Gln249His
ENST00000331920.11:c.1200G>T MANE Select	ENSP00000332353.6:p.Gln400His
ENST00000331920.10:c.1200G>T	ENSP00000332353.6:p.Gln400His
ENST00000375271.4:c.351G>T	ENSP00000364420.4:p.Gln117His
ENST00000375274.6:c.1197G>T	ENSP00000364423.2:p.Gln399His
ENST00000375290.6:c.837G>T	ENSP00000364439.2:p.Gln279His
ENST00000418258.5:c.747G>T	ENSP00000396135.1:p.Gln249His
ENST00000421141.5:c.747G>T	ENSP00000399981.1:p.Gln249His
ENST00000429896.6:c.747G>T	ENSP00000414823.2:p.Gln249His
ENST00000430669.6:c.1002G>T	ENSP00000410287.2:p.Gln334His
ENST00000437951.5:c.1002G>T	ENSP00000389744.1:p.Gln334His
NM_000264.3:c.1200G>T , LRG_515t1:c.1200G>T	NP_000255.2:p.Gln400His
NM_001083602.1:c.1002G>T , LRG_515t2:c.1002G>T	NP_001077071.1:p.Gln334His
NM_001083603.1:c.1197G>T	NP_001077072.1:p.Gln399His
NM_001083604.1:c.747G>T	NP_001077073.1:p.Gln249His
NM_001083605.1:c.747G>T	NP_001077074.1:p.Gln249His
NM_001083606.1:c.747G>T	NP_001077075.1:p.Gln249His
NM_001083607.1:c.747G>T	NP_001077076.1:p.Gln249His
XM_005252102.2:c.747G>T	XP_005252159.1:p.Gln249His
XM_011518868.1:c.1200G>T	XP_011517170.1:p.Gln400His
XM_011518869.1:c.747G>T	XP_011517171.1:p.Gln249His
XM_011518870.1:c.747G>T	XP_011517172.1:p.Gln249His
XM_011518871.1:c.747G>T	XP_011517173.1:p.Gln249His
XM_011518872.1:c.747G>T	XP_011517174.1:p.Gln249His
XM_011518873.1:c.360G>T	XP_011517175.1:p.Gln120His
XM_011518874.1:c.1200G>T	XP_011517176.1:p.Gln400His
NM_000264.4:c.1200G>T	NP_000255.2:p.Gln400His
NM_001083602.2:c.1002G>T	NP_001077071.1:p.Gln334His
NM_001083603.2:c.1197G>T	NP_001077072.1:p.Gln399His
NM_001083604.2:c.747G>T	NP_001077073.1:p.Gln249His
NM_001083605.2:c.747G>T	NP_001077074.1:p.Gln249His
NM_001083606.2:c.747G>T	NP_001077075.1:p.Gln249His
NM_001083607.2:c.747G>T	NP_001077076.1:p.Gln249His
NM_001354918.1:c.1200G>T	NP_001341847.1:p.Gln400His
NR_149061.1:n.1388G>T
NM_000264.5:c.1200G>T MANE Select	NP_000255.2:p.Gln400His
NM_001083606.3:c.747G>T	NP_001077075.1:p.Gln249His
NM_001354918.2:c.1200G>T	NP_001341847.1:p.Gln400His
NR_149061.2:n.2105G>T
NM_001083602.3:c.1002G>T	NP_001077071.1:p.Gln334His
NM_001083603.3:c.1197G>T MANE Plus Clinical	NP_001077072.1:p.Gln399His
NM_001083604.3:c.747G>T	NP_001077073.1:p.Gln249His
NM_001083605.3:c.747G>T	NP_001077074.1:p.Gln249His
NM_001083607.3:c.747G>T	NP_001077076.1:p.Gln249His