Canonical Allele Identifier: CA8725479
Gene: BPTF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67903834C>A , CM000679.2:g.67903834C>A GRCh38
NC_000017.10:g.65899950C>A , CM000679.1:g.65899950C>A GRCh37
NC_000017.9:g.63330412C>A NCBI36
NG_052828.1:g.83318C>A

Transcript Alleles

HGVS Amino-acid Change
NM_182641.4:c.2589C>A MANE Select NP_872579.2:p.Val863=
ENST00000306378.11:c.2589C>A MANE Select ENSP00000307208.6:p.Val863=
NM_004459.6:c.2967C>A NP_004450.3:p.Val989=
NM_004459.7:c.2967C>A NP_004450.3:p.Val989=
NM_182641.3:c.2589C>A NP_872579.2:p.Val863=
ENST00000306378.10:c.2589C>A ENSP00000307208.6:p.Val863=
ENST00000321892.8:c.2967C>A ENSP00000315454.4:p.Val989=
ENST00000335221.9:c.*116C>A ENSP00000334351.6:n.*116C>A
ENST00000342579.8:c.2550C>A ENSP00000343837.4:p.Val850=
ENST00000424123.7:c.2550C>A ENSP00000388405.3:p.Val850=
ENST00000544778.6:c.2778C>A ENSP00000440854.2:p.Val926=
ENST00000582467.2:c.2967C>A ENSP00000463776.2:p.Val989=
ENST00000644067.1:c.2550C>A ENSP00000496182.1:p.Val850=
XM_005257150.2:c.2967C>A XP_005257207.1:p.Val989=
XM_005257150.3:c.2967C>A XP_005257207.1:p.Val989=
XM_005257151.2:c.2964C>A XP_005257208.1:p.Val988=
XM_005257151.3:c.2964C>A XP_005257208.1:p.Val988=
XM_005257152.1:c.2967C>A XP_005257209.1:p.Val989=
XM_005257152.3:c.2967C>A XP_005257209.1:p.Val989=
XM_005257153.2:c.2967C>A XP_005257210.1:p.Val989=
XM_005257153.3:c.2967C>A XP_005257210.1:p.Val989=
XM_005257154.2:c.2967C>A XP_005257211.1:p.Val989=
XM_005257154.3:c.2967C>A XP_005257211.1:p.Val989=
XM_005257155.2:c.2778C>A XP_005257212.1:p.Val926=
XM_005257155.3:c.2778C>A XP_005257212.1:p.Val926=
XM_005257156.2:c.2778C>A XP_005257213.1:p.Val926=
XM_005257156.3:c.2778C>A XP_005257213.1:p.Val926=
XM_005257157.2:c.2775C>A XP_005257214.1:p.Val925=
XM_005257157.3:c.2775C>A XP_005257214.1:p.Val925=
XM_005257158.2:c.2589C>A XP_005257215.1:p.Val863=
XM_005257158.3:c.2589C>A XP_005257215.1:p.Val863=
XM_005257159.1:c.2967C>A XP_005257216.1:p.Val989=
XM_005257159.2:c.2967C>A XP_005257216.1:p.Val989=
XM_005257160.1:c.2967C>A XP_005257217.1:p.Val989=
XM_005257160.2:c.2967C>A XP_005257217.1:p.Val989=
XM_005257161.2:c.2967C>A XP_005257218.1:p.Val989=
XM_005257161.3:c.2967C>A XP_005257218.1:p.Val989=
XM_005257162.2:c.2967C>A XP_005257219.1:p.Val989=
XM_011524520.1:c.2964C>A XP_011522822.1:p.Val988=
XM_011524520.2:c.2964C>A XP_011522822.1:p.Val988=
XM_011524521.1:c.2775C>A XP_011522823.1:p.Val925=
XM_011524521.2:c.2775C>A XP_011522823.1:p.Val925=
XM_011524522.1:c.2586C>A XP_011522824.1:p.Val862=
XM_011524522.2:c.2586C>A XP_011522824.1:p.Val862=
XM_011524523.1:c.2586C>A XP_011522825.1:p.Val862=
XM_011524523.2:c.2586C>A XP_011522825.1:p.Val862=
XM_011524524.1:c.57C>A XP_011522826.1:p.Val19=
XM_011524524.3:c.57C>A XP_011522826.1:p.Val19=
XM_011524525.1:c.2586C>A XP_011522827.1:p.Val862=
XM_011524525.2:c.2586C>A XP_011522827.1:p.Val862=
XM_011524526.1:c.2586C>A XP_011522828.1:p.Val862=
XM_011524526.2:c.2586C>A XP_011522828.1:p.Val862=
XM_017024353.2:c.2967C>A XP_016879842.1:p.Val989=
XM_017024354.2:c.474C>A XP_016879843.1:p.Val158=
XM_024450646.1:c.2775C>A XP_024306414.1:p.Val925=
XM_024450647.1:c.2967C>A XP_024306415.1:p.Val989=
XR_001752449.1:n.3175C>A