Canonical Allele Identifier: CA4727941

Gene: ANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41694695G>A , CM000670.2:g.41694695G>A	GRCh38
NC_000008.10:g.41552213G>A , CM000670.1:g.41552213G>A	GRCh37
NC_000008.9:g.41671370G>A	NCBI36
NG_012820.1:g.207068C>T
NG_012820.2:g.207068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.3347C>T	ENSP00000265709.8:p.Thr1116Ile
ENST00000705521.1:c.3443C>T	ENSP00000516136.1:p.Thr1148Ile
ENST00000705522.1:c.3260C>T	ENSP00000516137.1:p.Thr1087Ile
ENST00000265709.13:c.3347C>T	ENSP00000265709.8:p.Thr1116Ile
ENST00000289734.13:c.3224C>T MANE Select	ENSP00000289734.8:p.Thr1075Ile
ENST00000265709.12:c.3347C>T	ENSP00000265709.8:p.Thr1116Ile
ENST00000289734.11:c.3224C>T	ENSP00000289734.7:p.Thr1075Ile
ENST00000347528.8:c.3224C>T	ENSP00000339620.4:p.Thr1075Ile
ENST00000520299.5:c.1188C>T
ENST00000524069.1:n.93C>T
ENST00000524227.5:n.707C>T
NM_000037.3:c.3224C>T	NP_000028.3:p.Thr1075Ile
NM_001142446.1:c.3347C>T	NP_001135918.1:p.Thr1116Ile
NM_020475.2:c.3224C>T	NP_065208.2:p.Thr1075Ile
NM_020476.2:c.3224C>T	NP_065209.2:p.Thr1075Ile
NM_020477.2:c.3224C>T	NP_065210.2:p.Thr1075Ile
XM_005273476.3:c.3347C>T	XP_005273533.1:p.Thr1116Ile
XM_011544490.1:c.3443C>T	XP_011542792.1:p.Thr1148Ile
XM_011544491.1:c.3443C>T	XP_011542793.1:p.Thr1148Ile
XM_011544492.1:c.3344C>T	XP_011542794.1:p.Thr1115Ile
XM_011544493.1:c.3443C>T	XP_011542795.1:p.Thr1148Ile
XM_011544494.1:c.3443C>T	XP_011542796.1:p.Thr1148Ile
XM_011544495.1:c.3443C>T	XP_011542797.1:p.Thr1148Ile
XM_011544496.1:c.3443C>T	XP_011542798.1:p.Thr1148Ile
XM_011544497.1:c.3323C>T	XP_011542799.1:p.Thr1108Ile
XM_011544498.1:c.3260C>T	XP_011542800.1:p.Thr1087Ile
XM_011544499.1:c.3443C>T	XP_011542801.1:p.Thr1148Ile
XM_011544500.1:c.3323C>T	XP_011542802.1:p.Thr1108Ile
XM_011544501.1:c.3323C>T	XP_011542803.1:p.Thr1108Ile
XM_011544502.1:c.3323C>T	XP_011542804.1:p.Thr1108Ile
XM_011544503.1:c.3443C>T	XP_011542805.1:p.Thr1148Ile
XM_011544504.1:c.3323C>T	XP_011542806.1:p.Thr1108Ile
XM_011544505.1:c.3323C>T	XP_011542807.1:p.Thr1108Ile
XM_011544506.1:c.3443C>T	XP_011542808.1:p.Thr1148Ile
XR_949389.1:n.3462C>T
XM_005273476.4:c.3347C>T	XP_005273533.1:p.Thr1116Ile
XM_011544490.3:c.3443C>T	XP_011542792.1:p.Thr1148Ile
XM_011544491.3:c.3443C>T	XP_011542793.1:p.Thr1148Ile
XM_011544494.3:c.3443C>T	XP_011542796.1:p.Thr1148Ile
XM_011544495.3:c.3443C>T	XP_011542797.1:p.Thr1148Ile
XM_011544496.3:c.3443C>T	XP_011542798.1:p.Thr1148Ile
XM_011544500.2:c.3323C>T	XP_011542802.1:p.Thr1108Ile
XM_011544501.2:c.3323C>T	XP_011542803.1:p.Thr1108Ile
XM_011544502.2:c.3323C>T	XP_011542804.1:p.Thr1108Ile
XM_011544503.3:c.3443C>T	XP_011542805.1:p.Thr1148Ile
XM_011544504.2:c.3323C>T	XP_011542806.1:p.Thr1108Ile
XM_011544505.2:c.3323C>T	XP_011542807.1:p.Thr1108Ile
XM_017013319.2:c.3419C>T	XP_016868808.1:p.Thr1140Ile
XM_017013320.2:c.3443C>T	XP_016868809.1:p.Thr1148Ile
XM_017013321.1:c.3356C>T	XP_016868810.1:p.Thr1119Ile
XM_017013322.1:c.3347C>T	XP_016868811.1:p.Thr1116Ile
XM_017013323.1:c.3344C>T	XP_016868812.1:p.Thr1115Ile
XM_017013324.1:c.3347C>T	XP_016868813.1:p.Thr1116Ile
XM_017013325.1:c.3260C>T	XP_016868814.1:p.Thr1087Ile
XM_017013326.1:c.3260C>T	XP_016868815.1:p.Thr1087Ile
XM_017013327.2:c.3443C>T	XP_016868816.1:p.Thr1148Ile
XM_017013328.2:c.3443C>T	XP_016868817.1:p.Thr1148Ile
XM_017013329.1:c.3347C>T	XP_016868818.1:p.Thr1116Ile
XM_024447128.1:c.3248C>T	XP_024302896.1:p.Thr1083Ile
NM_000037.4:c.3224C>T MANE Select	NP_000028.3:p.Thr1075Ile
NM_001142446.2:c.3347C>T	NP_001135918.1:p.Thr1116Ile
NM_020475.3:c.3224C>T	NP_065208.2:p.Thr1075Ile
NM_020476.3:c.3224C>T	NP_065209.2:p.Thr1075Ile
NM_020477.3:c.3224C>T	NP_065210.2:p.Thr1075Ile