Canonical Allele Identifier: CA7977182

Gene: KATNIP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27573942C>T , CM000678.2:g.27573942C>T	GRCh38
NC_000016.9:g.27585263C>T , CM000678.1:g.27585263C>T	GRCh37
NC_000016.8:g.27492764C>T	NCBI36
NG_046731.1:g.28796C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015202.5:c.49C>T MANE Select	NP_056017.4:p.Arg17Ter
ENST00000261588.10:c.49C>T MANE Select	ENSP00000261588.4:p.Arg17Ter
NM_015202.2:c.49C>T	NP_056017.2:p.Arg17Ter
NM_015202.3:c.49C>T	NP_056017.3:p.Arg17Ter
NM_015202.4:c.49C>T	NP_056017.3:p.Arg17Ter
ENST00000261588.8:c.49C>T	ENSP00000261588.4:p.Arg17Ter
ENST00000261588.9:c.49C>T	ENSP00000261588.4:p.Arg17Ter
ENST00000565672.5:c.21C>T
ENST00000566023.1:n.87C>T
ENST00000568258.5:c.36C>T
XM_005255201.2:c.49C>T	XP_005255258.1:p.Arg17Ter
XM_005255201.3:c.49C>T	XP_005255258.1:p.Arg17Ter
XM_005255202.2:c.49C>T	XP_005255259.1:p.Arg17Ter
XM_005255202.3:c.49C>T	XP_005255259.1:p.Arg17Ter
XM_005255203.2:c.49C>T	XP_005255260.1:p.Arg17Ter
XM_005255203.3:c.49C>T	XP_005255260.1:p.Arg17Ter
XM_005255206.2:c.49C>T	XP_005255263.1:p.Arg17Ter
XM_005255206.3:c.49C>T	XP_005255263.1:p.Arg17Ter
XM_006721025.2:c.49C>T	XP_006721088.1:p.Arg17Ter
XM_006721025.3:c.49C>T	XP_006721088.1:p.Arg17Ter
XM_011545773.1:c.-30C>T	XP_011544075.1:n.-30C>T
XM_011545773.2:c.-30C>T	XP_011544075.1:n.-30C>T
XM_011545774.1:c.-16+23765C>T	XP_011544076.1:n.-16+23765C>T
XM_011545774.2:c.-16+23765C>T	XP_011544076.1:n.-16+23765C>T
XM_011545775.1:c.49C>T	XP_011544077.1:p.Arg17Ter
XM_011545775.2:c.49C>T	XP_011544077.1:p.Arg17Ter
XM_011545776.1:c.49C>T	XP_011544078.1:p.Arg17Ter
XM_011545776.2:c.49C>T	XP_011544078.1:p.Arg17Ter
XM_017023085.1:c.49C>T	XP_016878574.1:p.Arg17Ter
XM_017023086.1:c.-16+23765C>T	XP_016878575.1:n.-16+23765C>T
XM_017023087.1:c.49C>T	XP_016878576.1:p.Arg17Ter
XM_024450216.1:c.49C>T	XP_024305984.1:p.Arg17Ter
XM_024450217.1:c.-541C>T	XP_024305985.1:n.-541C>T