Canonical Allele Identifier: CA6735300

Gene: ANKS1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.99504520T>G , CM000674.2:g.99504520T>G	GRCh38
NC_000012.11:g.99898298T>G , CM000674.1:g.99898298T>G	GRCh37
NC_000012.10:g.98422429T>G	NCBI36
NG_029860.1:g.485135A>C
NG_029860.2:g.485135A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683438.2:c.1394A>C MANE Select	ENSP00000508105.1:p.Lys465Thr
ENST00000547010.5:c.134A>C	ENSP00000448512.1:p.Lys45Thr
ENST00000547776.6:c.1394A>C	ENSP00000449629.2:p.Lys465Thr
ENST00000549866.5:c.1292A>C	ENSP00000449894.1:p.Lys431Thr
NM_152788.4:c.1394A>C	NP_690001.3:p.Lys465Thr
XM_005269028.3:c.1394A>C	XP_005269085.1:p.Lys465Thr
XM_005269029.3:c.1394A>C	XP_005269086.1:p.Lys465Thr
XM_006719504.2:c.1394A>C	XP_006719567.1:p.Lys465Thr
XM_006719505.2:c.1394A>C	XP_006719568.1:p.Lys465Thr
XM_006719506.2:c.1394A>C	XP_006719569.1:p.Lys465Thr
XM_006719507.2:c.1394A>C	XP_006719570.1:p.Lys465Thr
XM_006719508.2:c.1394A>C	XP_006719571.1:p.Lys465Thr
XM_006719509.2:c.1394A>C	XP_006719572.1:p.Lys465Thr
XM_006719510.2:c.1394A>C	XP_006719573.1:p.Lys465Thr
XM_006719511.2:c.1394A>C	XP_006719574.1:p.Lys465Thr
XM_006719512.2:c.1394A>C	XP_006719575.1:p.Lys465Thr
XM_006719513.2:c.1394A>C	XP_006719576.1:p.Lys465Thr
XM_006719514.2:c.1394A>C	XP_006719577.1:p.Lys465Thr
XM_011538570.1:c.1394A>C	XP_011536872.1:p.Lys465Thr
XM_011538571.1:c.1394A>C	XP_011536873.1:p.Lys465Thr
XM_011538572.1:c.1253A>C	XP_011536874.1:p.Lys418Thr
XR_944628.1:n.1884A>C
XR_944629.1:n.1884A>C
NM_001352185.1:c.1394A>C	NP_001339114.1:p.Lys465Thr
NM_001352186.1:c.1394A>C	NP_001339115.1:p.Lys465Thr
NM_001352187.1:c.1394A>C	NP_001339116.1:p.Lys465Thr
NM_001352188.1:c.1394A>C	NP_001339117.1:p.Lys465Thr
XM_005269029.5:c.1394A>C	XP_005269086.1:p.Lys465Thr
XM_006719504.4:c.1394A>C	XP_006719567.1:p.Lys465Thr
XM_006719505.4:c.1394A>C	XP_006719568.1:p.Lys465Thr
XM_006719507.4:c.1394A>C	XP_006719570.1:p.Lys465Thr
XM_006719508.4:c.1394A>C	XP_006719571.1:p.Lys465Thr
XM_006719510.4:c.1394A>C	XP_006719573.1:p.Lys465Thr
XM_006719512.4:c.1394A>C	XP_006719575.1:p.Lys465Thr
XM_006719513.4:c.1394A>C	XP_006719576.1:p.Lys465Thr
XM_006719514.4:c.1394A>C	XP_006719577.1:p.Lys465Thr
XM_011538571.3:c.1394A>C	XP_011536873.1:p.Lys465Thr
XM_017019652.2:c.1394A>C	XP_016875141.1:p.Lys465Thr
XM_017019653.2:c.1394A>C	XP_016875142.1:p.Lys465Thr
XM_017019654.2:c.1394A>C	XP_016875143.1:p.Lys465Thr
XM_017019655.2:c.1394A>C	XP_016875144.1:p.Lys465Thr
XM_017019656.2:c.1394A>C	XP_016875145.1:p.Lys465Thr
XM_017019657.2:c.1394A>C	XP_016875146.1:p.Lys465Thr
XM_017019658.2:c.1394A>C	XP_016875147.1:p.Lys465Thr
XM_024449060.1:c.134A>C	XP_024304828.1:p.Lys45Thr
XM_024449061.1:c.290A>C	XP_024304829.1:p.Lys97Thr
XM_024449062.1:c.134A>C	XP_024304830.1:p.Lys45Thr
XM_024449063.1:c.134A>C	XP_024304831.1:p.Lys45Thr
XR_001748815.2:n.1930A>C
NM_001352186.2:c.1394A>C MANE Select	NP_001339115.1:p.Lys465Thr