Canonical Allele Identifier: CA5138478
Community Standard Title: NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly)
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95469056T>C , CM000671.2:g.95469056T>C GRCh38
NC_000009.11:g.98231338T>C , CM000671.1:g.98231338T>C GRCh37
NC_000009.10:g.97271159T>C NCBI36
NG_007664.1:g.52910A>G , LRG_515:g.52910A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.1945A>G MANE Select NP_000255.2:p.Ser649Gly
ENST00000331920.11:c.1945A>G MANE Select ENSP00000332353.6:p.Ser649Gly
NM_001083603.3:c.1942A>G MANE Plus Clinical NP_001077072.1:p.Ser648Gly
ENST00000437951.6:c.1942A>G MANE Plus Clinical ENSP00000389744.2:p.Ser648Gly
NM_000264.3:c.1945A>G , LRG_515t1:c.1945A>G NP_000255.2:p.Ser649Gly
NM_000264.4:c.1945A>G NP_000255.2:p.Ser649Gly
NM_001083602.1:c.1747A>G , LRG_515t2:c.1747A>G NP_001077071.1:p.Ser583Gly
NM_001083602.2:c.1747A>G NP_001077071.1:p.Ser583Gly
NM_001083602.3:c.1747A>G NP_001077071.1:p.Ser583Gly
NM_001083603.1:c.1942A>G NP_001077072.1:p.Ser648Gly
NM_001083603.2:c.1942A>G NP_001077072.1:p.Ser648Gly
NM_001083604.1:c.1492A>G NP_001077073.1:p.Ser498Gly
NM_001083604.2:c.1492A>G NP_001077073.1:p.Ser498Gly
NM_001083604.3:c.1492A>G NP_001077073.1:p.Ser498Gly
NM_001083605.1:c.1492A>G NP_001077074.1:p.Ser498Gly
NM_001083605.2:c.1492A>G NP_001077074.1:p.Ser498Gly
NM_001083605.3:c.1492A>G NP_001077074.1:p.Ser498Gly
NM_001083606.1:c.1492A>G NP_001077075.1:p.Ser498Gly
NM_001083606.2:c.1492A>G NP_001077075.1:p.Ser498Gly
NM_001083606.3:c.1492A>G NP_001077075.1:p.Ser498Gly
NM_001083607.1:c.1492A>G NP_001077076.1:p.Ser498Gly
NM_001083607.2:c.1492A>G NP_001077076.1:p.Ser498Gly
NM_001083607.3:c.1492A>G NP_001077076.1:p.Ser498Gly
NM_001354918.1:c.1789A>G NP_001341847.1:p.Ser597Gly
NM_001354918.2:c.1789A>G NP_001341847.1:p.Ser597Gly
NR_038982.1:n.994T>C
NR_149061.1:n.2133A>G
NR_149061.2:n.2850A>G
ENST00000331920.10:c.1945A>G ENSP00000332353.6:p.Ser649Gly
ENST00000375271.4:c.940A>G ENSP00000364420.4:p.Ser314Gly
ENST00000375274.6:c.1942A>G ENSP00000364423.2:p.Ser648Gly
ENST00000375290.6:c.1714A>G ENSP00000364439.2:n.1714A>G
ENST00000418258.5:c.1492A>G ENSP00000396135.1:p.Ser498Gly
ENST00000421141.5:c.1492A>G ENSP00000399981.1:p.Ser498Gly
ENST00000429896.6:c.1492A>G ENSP00000414823.2:p.Ser498Gly
ENST00000430669.6:c.1747A>G ENSP00000410287.2:p.Ser583Gly
ENST00000437951.5:c.1747A>G ENSP00000389744.1:p.Ser583Gly
ENST00000549678.1:n.134A>G
ENST00000690194.1:c.*253A>G ENSP00000509379.1:n.*253A>G
ENST00000692981.1:c.1492A>G ENSP00000510238.1:p.Ser498Gly
ENST00000711046.1:c.1747A>G ENSP00000518556.1:p.Ser583Gly
XM_005252102.2:c.1492A>G XP_005252159.1:p.Ser498Gly
XM_011518868.1:c.1789A>G XP_011517170.1:p.Ser597Gly
XM_011518869.1:c.1492A>G XP_011517171.1:p.Ser498Gly
XM_011518870.1:c.1492A>G XP_011517172.1:p.Ser498Gly
XM_011518871.1:c.1492A>G XP_011517173.1:p.Ser498Gly
XM_011518872.1:c.1492A>G XP_011517174.1:p.Ser498Gly
XM_011518873.1:c.1105A>G XP_011517175.1:p.Ser369Gly
XM_011518874.1:c.1945A>G XP_011517176.1:p.Ser649Gly