Canonical Allele Identifier: CA7978082

Gene: KATNIP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27749809C>T , CM000678.2:g.27749809C>T	GRCh38
NC_000016.9:g.27761130C>T , CM000678.1:g.27761130C>T	GRCh37
NC_000016.8:g.27668631C>T	NCBI36
NG_046731.1:g.204663C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015202.5:c.2849C>T MANE Select	NP_056017.4:p.Ser950Leu
ENST00000261588.10:c.2849C>T MANE Select	ENSP00000261588.4:p.Ser950Leu
NM_015202.2:c.2849C>T	NP_056017.2:p.Ser950Leu
NM_015202.3:c.2849C>T	NP_056017.3:p.Ser950Leu
NM_015202.4:c.2849C>T	NP_056017.3:p.Ser950Leu
ENST00000261588.8:c.2849C>T	ENSP00000261588.4:p.Ser950Leu
ENST00000261588.9:c.2849C>T	ENSP00000261588.4:p.Ser950Leu
ENST00000573850.1:n.954C>T
XM_005255201.2:c.3032C>T	XP_005255258.1:p.Ser1011Leu
XM_005255201.3:c.3032C>T	XP_005255258.1:p.Ser1011Leu
XM_005255202.2:c.2978C>T	XP_005255259.1:p.Ser993Leu
XM_005255202.3:c.2978C>T	XP_005255259.1:p.Ser993Leu
XM_005255203.2:c.2903C>T	XP_005255260.1:p.Ser968Leu
XM_005255203.3:c.2903C>T	XP_005255260.1:p.Ser968Leu
XM_005255206.2:c.3032C>T	XP_005255263.1:p.Ser1011Leu
XM_005255206.3:c.3032C>T	XP_005255263.1:p.Ser1011Leu
XM_005255207.2:c.1727C>T	XP_005255264.1:p.Ser576Leu
XM_005255208.2:c.1628C>T	XP_005255265.1:p.Ser543Leu
XM_006721025.2:c.2771C>T	XP_006721088.1:p.Ser924Leu
XM_006721025.3:c.2771C>T	XP_006721088.1:p.Ser924Leu
XM_011545773.1:c.2954C>T	XP_011544075.1:p.Ser985Leu
XM_011545773.2:c.2954C>T	XP_011544075.1:p.Ser985Leu
XM_011545774.1:c.2954C>T	XP_011544076.1:p.Ser985Leu
XM_011545774.2:c.2954C>T	XP_011544076.1:p.Ser985Leu
XM_011545775.1:c.2912C>T	XP_011544077.1:p.Ser971Leu
XM_011545775.2:c.2912C>T	XP_011544077.1:p.Ser971Leu
XM_011545776.1:c.2900C>T	XP_011544078.1:p.Ser967Leu
XM_011545776.2:c.2900C>T	XP_011544078.1:p.Ser967Leu
XM_011545777.1:c.953C>T	XP_011544079.1:p.Ser318Leu
XM_011545777.2:c.953C>T	XP_011544079.1:p.Ser318Leu
XM_017023085.1:c.2783C>T	XP_016878574.1:p.Ser928Leu
XM_017023086.1:c.2771C>T	XP_016878575.1:p.Ser924Leu
XM_017023087.1:c.2717C>T	XP_016878576.1:p.Ser906Leu
XM_017023088.1:c.1727C>T	XP_016878577.1:p.Ser576Leu
XM_024450216.1:c.2846C>T	XP_024305984.1:p.Ser949Leu
XM_024450217.1:c.2366C>T	XP_024305985.1:p.Ser789Leu