Canonical Allele Identifier: CA5656477

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101580422A>G , CM000672.2:g.101580422A>G GRCh38
NC_000010.10:g.103340179A>G , CM000672.1:g.103340179A>G GRCh37
NC_000010.9:g.103330169A>G NCBI36
NG_017063.1:g.12849T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370162.8:c.1195-6T>C (POLL) MANE Select ENSP00000359181.3:n.1195-6T>C
ENST00000299206.8:c.1195-6T>C (POLL) ENSP00000299206.4:n.1195-6T>C
ENST00000339310.7:c.364-6T>C (POLL) ENSP00000343102.3:n.364-6T>C
ENST00000370162.7:c.1195-6T>C (POLL) ENSP00000359181.3:n.1195-6T>C
ENST00000370168.7:c.214-6T>C (POLL) ENSP00000359187.3:n.214-6T>C
ENST00000370169.5:c.1195-6T>C (POLL) ENSP00000359188.1:n.1195-6T>C
ENST00000370172.5:c.931-6T>C (POLL) ENSP00000359191.1:n.931-6T>C
ENST00000415897.5:c.919-6T>C (POLL) ENSP00000400676.1:n.919-6T>C
ENST00000429502.1:c.364-6T>C (POLL) ENSP00000406791.1:n.364-6T>C
ENST00000463515.1:n.1804T>C (POLL)
ENST00000470140.5:n.624-6T>C (POLL)
ENST00000470165.1:n.439+114A>G (DPCD)
ENST00000485369.5:n.465-6T>C (POLL)
ENST00000628479.2:c.370-6T>C (POLL) ENSP00000485885.1:n.370-6T>C
NM_001174084.1:c.1195-6T>C (POLL) NP_001167555.1:n.1195-6T>C
NM_001174085.1:c.919-6T>C (POLL) NP_001167556.1:n.919-6T>C
NM_001308382.1:c.370-6T>C (POLL) NP_001295311.1:n.370-6T>C
NM_013274.3:c.1195-6T>C (POLL) NP_037406.1:n.1195-6T>C
NR_033406.1:n.1226-6T>C (POLL)
XM_006717775.1:c.412-6T>C (POLL) XP_006717838.1:n.412-6T>C
XM_006717776.1:c.412-6T>C (POLL) XP_006717839.1:n.412-6T>C
XM_006717777.1:c.370-6T>C (POLL) XP_006717840.1:n.370-6T>C
XM_011539650.1:c.1195-6T>C (POLL) XP_011537952.1:n.1195-6T>C
XM_011539651.1:c.1195-6T>C (POLL) XP_011537953.1:n.1195-6T>C
XM_011539652.1:c.1195-6T>C (POLL) XP_011537954.1:n.1195-6T>C
XM_011539653.1:c.1195-6T>C (POLL) XP_011537955.1:n.1195-6T>C
XM_011539654.1:c.919-6T>C (POLL) XP_011537956.1:n.919-6T>C
XM_011539655.1:c.919-6T>C (POLL) XP_011537957.1:n.919-6T>C
XM_011539656.1:c.877-6T>C (POLL) XP_011537958.1:n.877-6T>C
XM_011539657.1:c.931-6T>C (POLL) XP_011537959.1:n.931-6T>C
XM_011539658.1:c.931-6T>C (POLL) XP_011537960.1:n.931-6T>C
XM_011539659.1:c.688-6T>C (POLL) XP_011537961.1:n.688-6T>C
XM_011539660.1:c.688-6T>C (POLL) XP_011537962.1:n.688-6T>C
XM_011539661.1:c.655-6T>C (POLL) XP_011537963.1:n.655-6T>C
XM_011539662.1:c.412-6T>C (POLL) XP_011537964.1:n.412-6T>C
XM_011539663.1:c.412-6T>C (POLL) XP_011537965.1:n.412-6T>C
XM_011539664.1:c.370-6T>C (POLL) XP_011537966.1:n.370-6T>C
XM_011539665.1:c.370-6T>C (POLL) XP_011537967.1:n.370-6T>C
XM_011539666.1:c.370-6T>C (POLL) XP_011537968.1:n.370-6T>C
XM_011539667.1:c.271-6T>C (POLL) XP_011537969.1:n.271-6T>C
XM_006717775.2:c.412-6T>C (POLL) XP_006717838.1:n.412-6T>C
XM_006717777.2:c.370-6T>C (POLL) XP_006717840.1:n.370-6T>C
XM_011539652.2:c.1195-6T>C (POLL) XP_011537954.1:n.1195-6T>C
XM_011539662.2:c.412-6T>C (POLL) XP_011537964.1:n.412-6T>C
XM_011539664.2:c.370-6T>C (POLL) XP_011537966.1:n.370-6T>C
XM_011539665.2:c.370-6T>C (POLL) XP_011537967.1:n.370-6T>C
XM_017016084.1:c.892-6T>C (POLL) XP_016871573.1:n.892-6T>C
XM_017016085.1:c.892-6T>C (POLL) XP_016871574.1:n.892-6T>C
XM_017016086.2:c.877-6T>C (POLL) XP_016871575.1:n.877-6T>C
XM_017016087.1:c.616-6T>C (POLL) XP_016871576.1:n.616-6T>C
XM_017016088.2:c.888-6T>C (POLL) XP_016871577.1:n.888-6T>C
XM_017016089.1:c.688-6T>C (POLL) XP_016871578.1:n.688-6T>C
XM_017016090.1:c.888-6T>C (POLL) XP_016871579.1:n.888-6T>C
XM_017016091.2:c.688-6T>C (POLL) XP_016871580.1:n.688-6T>C
XM_017016092.2:c.888-6T>C (POLL) XP_016871581.1:n.888-6T>C
XM_017016093.1:c.370-6T>C (POLL) XP_016871582.1:n.370-6T>C
XM_024447942.1:c.931-6T>C (POLL) XP_024303710.1:n.931-6T>C
XM_024447943.1:c.931-6T>C (POLL) XP_024303711.1:n.931-6T>C
XM_024447944.1:c.481-6T>C (POLL) XP_024303712.1:n.481-6T>C
XM_024447945.1:c.481-6T>C (POLL) XP_024303713.1:n.481-6T>C
NM_001174084.2:c.1195-6T>C (POLL) MANE Select NP_001167555.1:n.1195-6T>C
NM_001174085.2:c.919-6T>C (POLL) NP_001167556.1:n.919-6T>C
NM_001308382.2:c.370-6T>C (POLL) NP_001295311.1:n.370-6T>C
NM_013274.4:c.1195-6T>C (POLL) NP_037406.1:n.1195-6T>C