Canonical Allele Identifier: CA6735034

Gene: ANKS1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.99154454G>A , CM000674.2:g.99154454G>A	GRCh38
NC_000012.11:g.99548232G>A , CM000674.1:g.99548232G>A	GRCh37
NC_000012.10:g.98072363G>A	NCBI36
NG_029860.1:g.835201C>T
NG_029860.2:g.835201C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001352186.2:c.2420-59C>T MANE Select	NP_001339115.1:n.2420-59C>T
ENST00000683438.2:c.2420-59C>T MANE Select	ENSP00000508105.1:n.2420-59C>T
NM_001204066.1:c.-74-59C>T	NP_001190995.1:n.-74-59C>T
NM_001204066.2:c.-74-59C>T	NP_001190995.1:n.-74-59C>T
NM_001204067.1:c.5-59C>T	NP_001190996.1:n.5-59C>T
NM_001204067.2:c.5-59C>T	NP_001190996.1:n.5-59C>T
NM_001204068.1:c.39C>T	NP_001190997.1:p.Arg13=
NM_001204068.2:c.39C>T	NP_001190997.1:p.Arg13=
NM_001204069.1:c.39C>T	NP_001190998.1:p.Arg13=
NM_001204069.2:c.39C>T	NP_001190998.1:p.Arg13=
NM_001204070.1:c.39C>T	NP_001190999.1:p.Arg13=
NM_001204070.2:c.39C>T	NP_001190999.1:p.Arg13=
NM_001352185.1:c.2420-59C>T	NP_001339114.1:n.2420-59C>T
NM_001352186.1:c.2420-59C>T	NP_001339115.1:n.2420-59C>T
NM_001352187.1:c.2420-59C>T	NP_001339116.1:n.2420-59C>T
NM_001352188.1:c.2420-59C>T	NP_001339117.1:n.2420-59C>T
NM_001352189.1:c.5-59C>T	NP_001339118.1:n.5-59C>T
NM_001352190.1:c.5-59C>T	NP_001339119.1:n.5-59C>T
NM_001352191.1:c.-74-59C>T	NP_001339120.1:n.-74-59C>T
NM_001352191.2:c.-74-59C>T	NP_001339120.1:n.-74-59C>T
NM_001352192.1:c.-74-59C>T	NP_001339121.1:n.-74-59C>T
NM_001352192.2:c.-74-59C>T	NP_001339121.1:n.-74-59C>T
NM_001352193.1:c.-74-59C>T	NP_001339122.1:n.-74-59C>T
NM_001352193.2:c.-74-59C>T	NP_001339122.1:n.-74-59C>T
NM_001352194.1:c.39C>T	NP_001339123.1:p.Arg13=
NM_001352194.2:c.39C>T	NP_001339123.1:p.Arg13=
NM_001352195.1:c.39C>T	NP_001339124.1:p.Arg13=
NM_001352195.2:c.39C>T	NP_001339124.1:p.Arg13=
NM_001352196.1:c.39C>T	NP_001339125.1:p.Arg13=
NM_001352196.2:c.39C>T	NP_001339125.1:p.Arg13=
NM_001352197.1:c.39C>T	NP_001339126.1:p.Arg13=
NM_001352197.2:c.39C>T	NP_001339126.1:p.Arg13=
NM_001352198.1:c.39C>T	NP_001339127.1:p.Arg13=
NM_001352198.2:c.39C>T	NP_001339127.1:p.Arg13=
NM_001352199.1:c.39C>T	NP_001339128.1:p.Arg13=
NM_001352199.2:c.39C>T	NP_001339128.1:p.Arg13=
NM_001352200.1:c.39C>T	NP_001339129.1:p.Arg13=
NM_001352200.2:c.39C>T	NP_001339129.1:p.Arg13=
NM_001352201.1:c.39C>T	NP_001339130.1:p.Arg13=
NM_001352201.2:c.39C>T	NP_001339130.1:p.Arg13=
NM_001352202.1:c.39C>T	NP_001339131.1:p.Arg13=
NM_001352202.2:c.39C>T	NP_001339131.1:p.Arg13=
NM_001352203.1:c.39C>T	NP_001339132.1:p.Arg13=
NM_001352203.2:c.39C>T	NP_001339132.1:p.Arg13=
NM_001352204.1:c.39C>T	NP_001339133.1:p.Arg13=
NM_001352204.2:c.39C>T	NP_001339133.1:p.Arg13=
NM_001352205.1:c.39C>T	NP_001339134.1:p.Arg13=
NM_001352205.2:c.39C>T	NP_001339134.1:p.Arg13=
NM_001352206.1:c.39C>T	NP_001339135.1:p.Arg13=
NM_001352206.2:c.39C>T	NP_001339135.1:p.Arg13=
NM_020140.3:c.39C>T	NP_064525.1:p.Arg13=
NM_020140.4:c.39C>T	NP_064525.1:p.Arg13=
NM_152788.4:c.2420-59C>T	NP_690001.3:n.2420-59C>T
NM_181670.3:c.39C>T	NP_858056.2:p.Arg13=
NM_181670.4:c.39C>T	NP_858056.2:p.Arg13=
ENST00000546568.5:c.39C>T	ENSP00000448205.1:p.Arg13=
ENST00000546960.5:c.39C>T	ENSP00000447839.1:p.Arg13=
ENST00000547010.5:c.1148-59C>T	ENSP00000448512.1:n.1148-59C>T
ENST00000547446.5:c.5-59C>T	ENSP00000450015.1:n.5-59C>T
ENST00000547776.6:c.2420-59C>T	ENSP00000449629.2:n.2420-59C>T
ENST00000549025.6:c.-74-59C>T	ENSP00000447312.2:n.-74-59C>T
ENST00000549493.6:c.39C>T	ENSP00000448203.2:p.Arg13=
ENST00000549558.6:c.39C>T	ENSP00000448993.2:p.Arg13=
ENST00000550693.6:c.39C>T	ENSP00000447999.2:p.Arg13=
ENST00000550778.5:c.235-59C>T
ENST00000552245.5:n.262C>T
XM_005269028.3:c.2420-59C>T	XP_005269085.1:n.2420-59C>T
XM_005269029.3:c.2408-59C>T	XP_005269086.1:n.2408-59C>T
XM_005269029.5:c.2408-59C>T	XP_005269086.1:n.2408-59C>T
XM_006719504.2:c.2420-59C>T	XP_006719567.1:n.2420-59C>T
XM_006719504.4:c.2420-59C>T	XP_006719567.1:n.2420-59C>T
XM_006719505.2:c.2420-59C>T	XP_006719568.1:n.2420-59C>T
XM_006719505.4:c.2420-59C>T	XP_006719568.1:n.2420-59C>T
XM_006719506.2:c.2420-59C>T	XP_006719569.1:n.2420-59C>T
XM_006719507.2:c.2420-59C>T	XP_006719570.1:n.2420-59C>T
XM_006719507.4:c.2420-59C>T	XP_006719570.1:n.2420-59C>T
XM_006719508.2:c.2420-59C>T	XP_006719571.1:n.2420-59C>T
XM_006719508.4:c.2420-59C>T	XP_006719571.1:n.2420-59C>T
XM_006719509.2:c.2420-59C>T	XP_006719572.1:n.2420-59C>T
XM_006719510.2:c.2420-59C>T	XP_006719573.1:n.2420-59C>T
XM_006719510.4:c.2420-59C>T	XP_006719573.1:n.2420-59C>T
XM_006719511.2:c.2420-59C>T	XP_006719574.1:n.2420-59C>T
XM_006719512.2:c.2420-59C>T	XP_006719575.1:n.2420-59C>T
XM_006719512.4:c.2420-59C>T	XP_006719575.1:n.2420-59C>T
XM_006719513.2:c.2420-59C>T	XP_006719576.1:n.2420-59C>T
XM_006719513.4:c.2420-59C>T	XP_006719576.1:n.2420-59C>T
XM_006719514.2:c.2408-59C>T	XP_006719577.1:n.2408-59C>T
XM_006719514.4:c.2408-59C>T	XP_006719577.1:n.2408-59C>T
XM_011538570.1:c.2420-59C>T	XP_011536872.1:n.2420-59C>T
XM_011538571.1:c.2420-59C>T	XP_011536873.1:n.2420-59C>T
XM_011538571.3:c.2420-59C>T	XP_011536873.1:n.2420-59C>T
XM_011538572.1:c.2279-59C>T	XP_011536874.1:n.2279-59C>T
XM_017019652.2:c.2408-59C>T	XP_016875141.1:n.2408-59C>T
XM_017019653.2:c.2420-59C>T	XP_016875142.1:n.2420-59C>T
XM_017019654.2:c.2408-59C>T	XP_016875143.1:n.2408-59C>T
XM_017019655.2:c.2420-59C>T	XP_016875144.1:n.2420-59C>T
XM_017019656.2:c.2420-59C>T	XP_016875145.1:n.2420-59C>T
XM_017019657.2:c.2420-59C>T	XP_016875146.1:n.2420-59C>T
XM_017019658.2:c.2420-59C>T	XP_016875147.1:n.2420-59C>T
XM_024449060.1:c.1160-59C>T	XP_024304828.1:n.1160-59C>T
XM_024449061.1:c.1316-59C>T	XP_024304829.1:n.1316-59C>T
XM_024449062.1:c.1160-59C>T	XP_024304830.1:n.1160-59C>T
XM_024449063.1:c.1160-59C>T	XP_024304831.1:n.1160-59C>T
XM_024449064.1:c.311-59C>T	XP_024304832.1:n.311-59C>T
XM_024449065.1:c.5-59C>T	XP_024304833.1:n.5-59C>T
XM_024449066.1:c.39C>T	XP_024304834.1:p.Arg13=
XM_024449067.1:c.39C>T	XP_024304835.1:p.Arg13=
XM_024449068.1:c.39C>T	XP_024304836.1:p.Arg13=
XM_024449069.1:c.-74-59C>T	XP_024304837.1:n.-74-59C>T
XM_024449070.1:c.-74-59C>T	XP_024304838.1:n.-74-59C>T
XR_001748815.2:n.2956-59C>T
XR_944628.1:n.2910-59C>T
XR_944629.1:n.2910-59C>T