Canonical Allele Identifier: CA4727142

Gene: ANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41661900G>A , CM000670.2:g.41661900G>A	GRCh38
NC_000008.10:g.41519418G>A , CM000670.1:g.41519418G>A	GRCh37
NC_000008.9:g.41638575G>A	NCBI36
NG_012820.1:g.239863C>T
NG_012820.2:g.239863C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000037.4:c.5520C>T MANE Select	NP_000028.3:p.Ala1840=
ENST00000289734.13:c.5520C>T MANE Select	ENSP00000289734.8:p.Ala1840=
NM_000037.3:c.5520C>T	NP_000028.3:p.Ala1840=
NM_001142445.1:c.345C>T	NP_001135917.1:p.Ala115=
NM_001142445.2:c.345C>T	NP_001135917.1:p.Ala115=
NM_001142446.1:c.5643C>T	NP_001135918.1:p.Ala1881=
NM_001142446.2:c.5643C>T	NP_001135918.1:p.Ala1881=
NM_020475.2:c.5520C>T	NP_065208.2:p.Ala1840=
NM_020475.3:c.5520C>T	NP_065208.2:p.Ala1840=
NM_020476.2:c.5520C>T	NP_065209.2:p.Ala1840=
NM_020476.3:c.5520C>T	NP_065209.2:p.Ala1840=
NM_020477.2:c.5034C>T	NP_065210.2:p.Ala1678=
NM_020477.3:c.5034C>T	NP_065210.2:p.Ala1678=
NM_020478.4:c.345C>T	NP_065211.2:p.Ala115=
NM_020478.5:c.345C>T	NP_065211.2:p.Ala115=
NM_020480.4:c.303+1759C>T	NP_065213.2:n.303+1759C>T
NM_020480.5:c.303+1759C>T	NP_065213.2:n.303+1759C>T
ENST00000265709.12:c.5643C>T	ENSP00000265709.8:p.Ala1881=
ENST00000265709.13:c.5643C>T	ENSP00000265709.8:p.Ala1881=
ENST00000265709.14:c.5643C>T	ENSP00000265709.8:p.Ala1881=
ENST00000289734.11:c.5520C>T	ENSP00000289734.7:p.Ala1840=
ENST00000314214.12:c.345C>T	ENSP00000319123.8:p.Ala115=
ENST00000335651.6:c.304-336C>T	ENSP00000335031.6:n.304-336C>T
ENST00000347528.8:c.5520C>T	ENSP00000339620.4:p.Ala1840=
ENST00000348036.8:c.303+1759C>T	ENSP00000297744.5:n.303+1759C>T
ENST00000518715.1:n.529C>T
ENST00000518715.2:n.529C>T
ENST00000520299.5:c.2998C>T
ENST00000522231.5:c.345C>T	ENSP00000428750.1:p.Ala115=
ENST00000522543.5:c.345C>T	ENSP00000430368.1:p.Ala115=
ENST00000522543.6:c.345C>T	ENSP00000430368.1:p.Ala115=
ENST00000524227.5:n.2914C>T
ENST00000645531.1:c.1534C>T
ENST00000705521.1:c.5739C>T	ENSP00000516136.1:p.Ala1913=
ENST00000705522.1:c.5472C>T	ENSP00000516137.1:p.Ala1824=
XM_005273476.3:c.5643C>T	XP_005273533.1:p.Ala1881=
XM_005273476.4:c.5643C>T	XP_005273533.1:p.Ala1881=
XM_011544490.1:c.5784C>T	XP_011542792.1:p.Ala1928=
XM_011544490.3:c.5784C>T	XP_011542792.1:p.Ala1928=
XM_011544491.1:c.5784C>T	XP_011542793.1:p.Ala1928=
XM_011544491.3:c.5784C>T	XP_011542793.1:p.Ala1928=
XM_011544492.1:c.5685C>T	XP_011542794.1:p.Ala1895=
XM_011544493.1:c.5784C>T	XP_011542795.1:p.Ala1928=
XM_011544494.1:c.5739C>T	XP_011542796.1:p.Ala1913=
XM_011544494.3:c.5739C>T	XP_011542796.1:p.Ala1913=
XM_011544495.1:c.5739C>T	XP_011542797.1:p.Ala1913=
XM_011544495.3:c.5739C>T	XP_011542797.1:p.Ala1913=
XM_011544496.1:c.5784C>T	XP_011542798.1:p.Ala1928=
XM_011544496.3:c.5784C>T	XP_011542798.1:p.Ala1928=
XM_011544497.1:c.5619C>T	XP_011542799.1:p.Ala1873=
XM_011544498.1:c.5601C>T	XP_011542800.1:p.Ala1867=
XM_011544499.1:c.5742+1759C>T	XP_011542801.1:n.5742+1759C>T
XM_011544500.1:c.5619C>T	XP_011542802.1:p.Ala1873=
XM_011544500.2:c.5619C>T	XP_011542802.1:p.Ala1873=
XM_011544501.1:c.5619C>T	XP_011542803.1:p.Ala1873=
XM_011544501.2:c.5619C>T	XP_011542803.1:p.Ala1873=
XM_011544502.1:c.5619C>T	XP_011542804.1:p.Ala1873=
XM_011544502.2:c.5619C>T	XP_011542804.1:p.Ala1873=
XM_011544503.1:c.5253C>T	XP_011542805.1:p.Ala1751=
XM_011544503.3:c.5253C>T	XP_011542805.1:p.Ala1751=
XM_011544504.1:c.5133C>T	XP_011542806.1:p.Ala1711=
XM_011544504.2:c.5133C>T	XP_011542806.1:p.Ala1711=
XM_011544505.1:c.5133C>T	XP_011542807.1:p.Ala1711=
XM_011544505.2:c.5133C>T	XP_011542807.1:p.Ala1711=
XM_017013319.2:c.5760C>T	XP_016868808.1:p.Ala1920=
XM_017013320.2:c.5743-336C>T	XP_016868809.1:n.5743-336C>T
XM_017013321.1:c.5697C>T	XP_016868810.1:p.Ala1899=
XM_017013322.1:c.5688C>T	XP_016868811.1:p.Ala1896=
XM_017013323.1:c.5685C>T	XP_016868812.1:p.Ala1895=
XM_017013324.1:c.5643C>T	XP_016868813.1:p.Ala1881=
XM_017013325.1:c.5601C>T	XP_016868814.1:p.Ala1867=
XM_017013326.1:c.5556C>T	XP_016868815.1:p.Ala1852=
XM_017013327.2:c.5298C>T	XP_016868816.1:p.Ala1766=
XM_017013328.2:c.5253C>T	XP_016868817.1:p.Ala1751=
XM_017013329.1:c.5157C>T	XP_016868818.1:p.Ala1719=
XM_024447128.1:c.5589C>T	XP_024302896.1:p.Ala1863=
XR_949389.1:n.5375C>T