Canonical Allele Identifier: CA374113625
Community Standard Title: NM_000264.5(PTCH1):c.937T>G (p.Ser313Ala)
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95480398A>C , CM000671.2:g.95480398A>C GRCh38
NC_000009.11:g.98242680A>C , CM000671.1:g.98242680A>C GRCh37
NC_000009.10:g.97282501A>C NCBI36
NG_007664.1:g.41568T>G , LRG_515:g.41568T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.937T>G MANE Select NP_000255.2:p.Ser313Ala
ENST00000331920.11:c.937T>G MANE Select ENSP00000332353.6:p.Ser313Ala
NM_001083603.3:c.934T>G MANE Plus Clinical NP_001077072.1:p.Ser312Ala
ENST00000437951.6:c.934T>G MANE Plus Clinical ENSP00000389744.2:p.Ser312Ala
NM_000264.3:c.937T>G , LRG_515t1:c.937T>G NP_000255.2:p.Ser313Ala
NM_000264.4:c.937T>G NP_000255.2:p.Ser313Ala
NM_001083602.1:c.739T>G , LRG_515t2:c.739T>G NP_001077071.1:p.Ser247Ala
NM_001083602.2:c.739T>G NP_001077071.1:p.Ser247Ala
NM_001083602.3:c.739T>G NP_001077071.1:p.Ser247Ala
NM_001083603.1:c.934T>G NP_001077072.1:p.Ser312Ala
NM_001083603.2:c.934T>G NP_001077072.1:p.Ser312Ala
NM_001083604.1:c.484T>G NP_001077073.1:p.Ser162Ala
NM_001083604.2:c.484T>G NP_001077073.1:p.Ser162Ala
NM_001083604.3:c.484T>G NP_001077073.1:p.Ser162Ala
NM_001083605.1:c.484T>G NP_001077074.1:p.Ser162Ala
NM_001083605.2:c.484T>G NP_001077074.1:p.Ser162Ala
NM_001083605.3:c.484T>G NP_001077074.1:p.Ser162Ala
NM_001083606.1:c.484T>G NP_001077075.1:p.Ser162Ala
NM_001083606.2:c.484T>G NP_001077075.1:p.Ser162Ala
NM_001083606.3:c.484T>G NP_001077075.1:p.Ser162Ala
NM_001083607.1:c.484T>G NP_001077076.1:p.Ser162Ala
NM_001083607.2:c.484T>G NP_001077076.1:p.Ser162Ala
NM_001083607.3:c.484T>G NP_001077076.1:p.Ser162Ala
NM_001354918.1:c.937T>G NP_001341847.1:p.Ser313Ala
NM_001354918.2:c.937T>G NP_001341847.1:p.Ser313Ala
NR_149061.1:n.1125T>G
NR_149061.2:n.1842T>G
ENST00000331920.10:c.937T>G ENSP00000332353.6:p.Ser313Ala
ENST00000375271.4:c.88T>G ENSP00000364420.4:p.Ser30Ala
ENST00000375274.6:c.934T>G ENSP00000364423.2:p.Ser312Ala
ENST00000375290.6:c.574T>G ENSP00000364439.2:p.Ser192Ala
ENST00000418258.5:c.484T>G ENSP00000396135.1:p.Ser162Ala
ENST00000421141.5:c.484T>G ENSP00000399981.1:p.Ser162Ala
ENST00000429896.6:c.484T>G ENSP00000414823.2:p.Ser162Ala
ENST00000430669.6:c.739T>G ENSP00000410287.2:p.Ser247Ala
ENST00000437951.5:c.739T>G ENSP00000389744.1:p.Ser247Ala
ENST00000488809.2:n.58T>G
ENST00000546820.5:c.484T>G ENSP00000448843.1:p.Ser162Ala
ENST00000547672.5:c.484T>G ENSP00000447878.1:p.Ser162Ala
ENST00000548420.1:c.97T>G ENSP00000449078.1:p.Ser33Ala
ENST00000551845.5:c.484T>G ENSP00000447008.1:p.Ser162Ala
ENST00000553011.5:c.484T>G ENSP00000447797.1:p.Ser162Ala
ENST00000690194.1:c.484T>G ENSP00000509379.1:p.Ser162Ala
ENST00000692981.1:c.484T>G ENSP00000510238.1:p.Ser162Ala
ENST00000711046.1:c.739T>G ENSP00000518556.1:p.Ser247Ala
XM_005252102.2:c.484T>G XP_005252159.1:p.Ser162Ala
XM_011518868.1:c.937T>G XP_011517170.1:p.Ser313Ala
XM_011518869.1:c.484T>G XP_011517171.1:p.Ser162Ala
XM_011518870.1:c.484T>G XP_011517172.1:p.Ser162Ala
XM_011518871.1:c.484T>G XP_011517173.1:p.Ser162Ala
XM_011518872.1:c.484T>G XP_011517174.1:p.Ser162Ala
XM_011518873.1:c.97T>G XP_011517175.1:p.Ser33Ala
XM_011518874.1:c.937T>G XP_011517176.1:p.Ser313Ala