Canonical Allele Identifier: CA14424516
Gene: BPTF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67902693G>A , CM000679.2:g.67902693G>A GRCh38
NC_000017.10:g.65898809G>A , CM000679.1:g.65898809G>A GRCh37
NC_000017.9:g.63329271G>A NCBI36
NG_052828.1:g.82177G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000582467.2:c.2922-1096G>A ENSP00000463776.2:n.2922-1096G>A
ENST00000306378.11:c.2544-1096G>A MANE Select ENSP00000307208.6:n.2544-1096G>A
ENST00000342579.8:c.2505-1096G>A ENSP00000343837.4:n.2505-1096G>A
ENST00000644067.1:c.2505-1096G>A ENSP00000496182.1:n.2505-1096G>A
ENST00000306378.10:c.2544-1096G>A ENSP00000307208.6:n.2544-1096G>A
ENST00000321892.8:c.2922-1096G>A ENSP00000315454.4:n.2922-1096G>A
ENST00000335221.9:c.*71-1096G>A ENSP00000334351.6:n.*71-1096G>A
ENST00000424123.7:c.2505-1096G>A ENSP00000388405.3:n.2505-1096G>A
ENST00000544778.6:c.2733-1096G>A ENSP00000440854.2:n.2733-1096G>A
NM_004459.6:c.2922-1096G>A NP_004450.3:n.2922-1096G>A
NM_182641.3:c.2544-1096G>A NP_872579.2:n.2544-1096G>A
XM_005257150.2:c.2922-1096G>A XP_005257207.1:n.2922-1096G>A
XM_005257151.2:c.2919-1096G>A XP_005257208.1:n.2919-1096G>A
XM_005257152.1:c.2922-1096G>A XP_005257209.1:n.2922-1096G>A
XM_005257153.2:c.2922-1096G>A XP_005257210.1:n.2922-1096G>A
XM_005257154.2:c.2922-1096G>A XP_005257211.1:n.2922-1096G>A
XM_005257155.2:c.2733-1096G>A XP_005257212.1:n.2733-1096G>A
XM_005257156.2:c.2733-1096G>A XP_005257213.1:n.2733-1096G>A
XM_005257157.2:c.2730-1096G>A XP_005257214.1:n.2730-1096G>A
XM_005257158.2:c.2544-1096G>A XP_005257215.1:n.2544-1096G>A
XM_005257159.1:c.2922-1096G>A XP_005257216.1:n.2922-1096G>A
XM_005257160.1:c.2922-1096G>A XP_005257217.1:n.2922-1096G>A
XM_005257161.2:c.2922-1096G>A XP_005257218.1:n.2922-1096G>A
XM_005257162.2:c.2922-1096G>A XP_005257219.1:n.2922-1096G>A
XM_011524520.1:c.2919-1096G>A XP_011522822.1:n.2919-1096G>A
XM_011524521.1:c.2730-1096G>A XP_011522823.1:n.2730-1096G>A
XM_011524522.1:c.2541-1096G>A XP_011522824.1:n.2541-1096G>A
XM_011524523.1:c.2541-1096G>A XP_011522825.1:n.2541-1096G>A
XM_011524524.1:c.12-1096G>A XP_011522826.1:n.12-1096G>A
XM_011524525.1:c.2541-1096G>A XP_011522827.1:n.2541-1096G>A
XM_011524526.1:c.2541-1096G>A XP_011522828.1:n.2541-1096G>A
XM_005257150.3:c.2922-1096G>A XP_005257207.1:n.2922-1096G>A
XM_005257151.3:c.2919-1096G>A XP_005257208.1:n.2919-1096G>A
XM_005257152.3:c.2922-1096G>A XP_005257209.1:n.2922-1096G>A
XM_005257153.3:c.2922-1096G>A XP_005257210.1:n.2922-1096G>A
XM_005257154.3:c.2922-1096G>A XP_005257211.1:n.2922-1096G>A
XM_005257155.3:c.2733-1096G>A XP_005257212.1:n.2733-1096G>A
XM_005257156.3:c.2733-1096G>A XP_005257213.1:n.2733-1096G>A
XM_005257157.3:c.2730-1096G>A XP_005257214.1:n.2730-1096G>A
XM_005257158.3:c.2544-1096G>A XP_005257215.1:n.2544-1096G>A
XM_005257159.2:c.2922-1096G>A XP_005257216.1:n.2922-1096G>A
XM_005257160.2:c.2922-1096G>A XP_005257217.1:n.2922-1096G>A
XM_005257161.3:c.2922-1096G>A XP_005257218.1:n.2922-1096G>A
XM_011524520.2:c.2919-1096G>A XP_011522822.1:n.2919-1096G>A
XM_011524521.2:c.2730-1096G>A XP_011522823.1:n.2730-1096G>A
XM_011524522.2:c.2541-1096G>A XP_011522824.1:n.2541-1096G>A
XM_011524523.2:c.2541-1096G>A XP_011522825.1:n.2541-1096G>A
XM_011524524.3:c.12-1096G>A XP_011522826.1:n.12-1096G>A
XM_011524525.2:c.2541-1096G>A XP_011522827.1:n.2541-1096G>A
XM_011524526.2:c.2541-1096G>A XP_011522828.1:n.2541-1096G>A
XM_017024353.2:c.2922-1096G>A XP_016879842.1:n.2922-1096G>A
XM_017024354.2:c.429-1096G>A XP_016879843.1:n.429-1096G>A
XM_024450646.1:c.2730-1096G>A XP_024306414.1:n.2730-1096G>A
XM_024450647.1:c.2922-1096G>A XP_024306415.1:n.2922-1096G>A
XR_001752449.1:n.3130-1096G>A
NM_182641.4:c.2544-1096G>A MANE Select NP_872579.2:n.2544-1096G>A
NM_004459.7:c.2922-1096G>A NP_004450.3:n.2922-1096G>A
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