Canonical Allele Identifier: CA5138069
Community Standard Title: NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg)
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95449115T>C , CM000671.2:g.95449115T>C GRCh38
NC_000009.11:g.98211397T>C , CM000671.1:g.98211397T>C GRCh37
NC_000009.10:g.97251218T>C NCBI36
NG_007664.1:g.72851A>G , LRG_515:g.72851A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.3758A>G MANE Select NP_000255.2:p.Gln1253Arg
ENST00000331920.11:c.3758A>G MANE Select ENSP00000332353.6:p.Gln1253Arg
NM_001083603.3:c.3755A>G MANE Plus Clinical NP_001077072.1:p.Gln1252Arg
ENST00000437951.6:c.3755A>G MANE Plus Clinical ENSP00000389744.2:p.Gln1252Arg
NM_000264.3:c.3758A>G , LRG_515t1:c.3758A>G NP_000255.2:p.Gln1253Arg
NM_000264.4:c.3758A>G NP_000255.2:p.Gln1253Arg
NM_001083602.1:c.3560A>G , LRG_515t2:c.3560A>G NP_001077071.1:p.Gln1187Arg
NM_001083602.2:c.3560A>G NP_001077071.1:p.Gln1187Arg
NM_001083602.3:c.3560A>G NP_001077071.1:p.Gln1187Arg
NM_001083603.1:c.3755A>G NP_001077072.1:p.Gln1252Arg
NM_001083603.2:c.3755A>G NP_001077072.1:p.Gln1252Arg
NM_001083604.1:c.3305A>G NP_001077073.1:p.Gln1102Arg
NM_001083604.2:c.3305A>G NP_001077073.1:p.Gln1102Arg
NM_001083604.3:c.3305A>G NP_001077073.1:p.Gln1102Arg
NM_001083605.1:c.3305A>G NP_001077074.1:p.Gln1102Arg
NM_001083605.2:c.3305A>G NP_001077074.1:p.Gln1102Arg
NM_001083605.3:c.3305A>G NP_001077074.1:p.Gln1102Arg
NM_001083606.1:c.3305A>G NP_001077075.1:p.Gln1102Arg
NM_001083606.2:c.3305A>G NP_001077075.1:p.Gln1102Arg
NM_001083606.3:c.3305A>G NP_001077075.1:p.Gln1102Arg
NM_001083607.1:c.3305A>G NP_001077076.1:p.Gln1102Arg
NM_001083607.2:c.3305A>G NP_001077076.1:p.Gln1102Arg
NM_001083607.3:c.3305A>G NP_001077076.1:p.Gln1102Arg
NM_001354918.1:c.3602A>G NP_001341847.1:p.Gln1201Arg
NM_001354918.2:c.3602A>G NP_001341847.1:p.Gln1201Arg
NR_149061.1:n.3780A>G
NR_149061.2:n.4497A>G
ENST00000331920.10:c.3758A>G ENSP00000332353.6:p.Gln1253Arg
ENST00000375274.6:c.3755A>G ENSP00000364423.2:p.Gln1252Arg
ENST00000375290.6:c.7064A>G ENSP00000364439.2:n.7064A>G
ENST00000418258.5:c.3305A>G ENSP00000396135.1:p.Gln1102Arg
ENST00000421141.5:c.3305A>G ENSP00000399981.1:p.Gln1102Arg
ENST00000429896.6:c.3305A>G ENSP00000414823.2:p.Gln1102Arg
ENST00000430669.6:c.3560A>G ENSP00000410287.2:p.Gln1187Arg
ENST00000437951.5:c.3560A>G ENSP00000389744.1:p.Gln1187Arg
ENST00000546744.5:n.822A>G
ENST00000687744.1:n.1955A>G
ENST00000690194.1:c.*2066A>G ENSP00000509379.1:n.*2066A>G
ENST00000692981.1:c.3305A>G ENSP00000510238.1:p.Gln1102Arg
ENST00000693534.1:n.1105A>G
ENST00000711046.1:c.3560A>G ENSP00000518556.1:p.Gln1187Arg
XM_005252102.2:c.3305A>G XP_005252159.1:p.Gln1102Arg
XM_011518868.1:c.3602A>G XP_011517170.1:p.Gln1201Arg
XM_011518869.1:c.3305A>G XP_011517171.1:p.Gln1102Arg
XM_011518870.1:c.3305A>G XP_011517172.1:p.Gln1102Arg
XM_011518871.1:c.3305A>G XP_011517173.1:p.Gln1102Arg
XM_011518872.1:c.3305A>G XP_011517174.1:p.Gln1102Arg
XM_011518873.1:c.2918A>G XP_011517175.1:p.Gln973Arg