Canonical Allele Identifier: CA374115890
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95469012C>A , CM000671.2:g.95469012C>A GRCh38
NC_000009.11:g.98231294C>A , CM000671.1:g.98231294C>A GRCh37
NC_000009.10:g.97271115C>A NCBI36
NG_007664.1:g.52954G>T , LRG_515:g.52954G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.1989G>T MANE Select NP_000255.2:p.Gln663His
ENST00000331920.11:c.1989G>T MANE Select ENSP00000332353.6:p.Gln663His
NM_001083603.3:c.1986G>T MANE Plus Clinical NP_001077072.1:p.Gln662His
ENST00000437951.6:c.1986G>T MANE Plus Clinical ENSP00000389744.2:p.Gln662His
NM_000264.3:c.1989G>T , LRG_515t1:c.1989G>T NP_000255.2:p.Gln663His
NM_000264.4:c.1989G>T NP_000255.2:p.Gln663His
NM_001083602.1:c.1791G>T , LRG_515t2:c.1791G>T NP_001077071.1:p.Gln597His
NM_001083602.2:c.1791G>T NP_001077071.1:p.Gln597His
NM_001083602.3:c.1791G>T NP_001077071.1:p.Gln597His
NM_001083603.1:c.1986G>T NP_001077072.1:p.Gln662His
NM_001083603.2:c.1986G>T NP_001077072.1:p.Gln662His
NM_001083604.1:c.1536G>T NP_001077073.1:p.Gln512His
NM_001083604.2:c.1536G>T NP_001077073.1:p.Gln512His
NM_001083604.3:c.1536G>T NP_001077073.1:p.Gln512His
NM_001083605.1:c.1536G>T NP_001077074.1:p.Gln512His
NM_001083605.2:c.1536G>T NP_001077074.1:p.Gln512His
NM_001083605.3:c.1536G>T NP_001077074.1:p.Gln512His
NM_001083606.1:c.1536G>T NP_001077075.1:p.Gln512His
NM_001083606.2:c.1536G>T NP_001077075.1:p.Gln512His
NM_001083606.3:c.1536G>T NP_001077075.1:p.Gln512His
NM_001083607.1:c.1536G>T NP_001077076.1:p.Gln512His
NM_001083607.2:c.1536G>T NP_001077076.1:p.Gln512His
NM_001083607.3:c.1536G>T NP_001077076.1:p.Gln512His
NM_001354918.1:c.1833G>T NP_001341847.1:p.Gln611His
NM_001354918.2:c.1833G>T NP_001341847.1:p.Gln611His
NR_038982.1:n.950C>A
NR_149061.1:n.2177G>T
NR_149061.2:n.2894G>T
ENST00000331920.10:c.1989G>T ENSP00000332353.6:p.Gln663His
ENST00000375271.4:c.984G>T ENSP00000364420.4:p.Gln328His
ENST00000375274.6:c.1986G>T ENSP00000364423.2:p.Gln662His
ENST00000375290.6:c.1758G>T ENSP00000364439.2:n.1758G>T
ENST00000418258.5:c.1536G>T ENSP00000396135.1:p.Gln512His
ENST00000421141.5:c.1536G>T ENSP00000399981.1:p.Gln512His
ENST00000429896.6:c.1536G>T ENSP00000414823.2:p.Gln512His
ENST00000430669.6:c.1791G>T ENSP00000410287.2:p.Gln597His
ENST00000437951.5:c.1791G>T ENSP00000389744.1:p.Gln597His
ENST00000549678.1:n.178G>T
ENST00000690194.1:c.*297G>T ENSP00000509379.1:n.*297G>T
ENST00000692981.1:c.1536G>T ENSP00000510238.1:p.Gln512His
ENST00000711046.1:c.1791G>T ENSP00000518556.1:p.Gln597His
XM_005252102.2:c.1536G>T XP_005252159.1:p.Gln512His
XM_011518868.1:c.1833G>T XP_011517170.1:p.Gln611His
XM_011518869.1:c.1536G>T XP_011517171.1:p.Gln512His
XM_011518870.1:c.1536G>T XP_011517172.1:p.Gln512His
XM_011518871.1:c.1536G>T XP_011517173.1:p.Gln512His
XM_011518872.1:c.1536G>T XP_011517174.1:p.Gln512His
XM_011518873.1:c.1149G>T XP_011517175.1:p.Gln383His
XM_011518874.1:c.1989G>T XP_011517176.1:p.Gln663His