Canonical Allele Identifier: CA371051482

Gene: ANK1

Linked Data

• MyVariant Identifiers: chr8:g.41525934C>T (hg19) ; chr8:g.41668416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668416C>T , CM000670.2:g.41668416C>T	GRCh38
NC_000008.10:g.41525934C>T , CM000670.1:g.41525934C>T	GRCh37
NC_000008.9:g.41645091C>T	NCBI36
NG_012820.1:g.233347G>A
NG_012820.2:g.233347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5368G>A	ENSP00000265709.8:p.Glu1790Lys
ENST00000705521.1:c.5464G>A	ENSP00000516136.1:p.Glu1822Lys
ENST00000705522.1:c.5281G>A	ENSP00000516137.1:p.Glu1761Lys
ENST00000265709.13:c.5368G>A	ENSP00000265709.8:p.Glu1790Lys
ENST00000289734.13:c.5245G>A MANE Select	ENSP00000289734.8:p.Glu1749Lys
ENST00000645531.1:c.1259G>A
ENST00000265709.12:c.5368G>A	ENSP00000265709.8:p.Glu1790Lys
ENST00000289734.11:c.5245G>A	ENSP00000289734.7:p.Glu1749Lys
ENST00000347528.8:c.5245G>A	ENSP00000339620.4:p.Glu1749Lys
ENST00000518061.1:c.817G>A
ENST00000520299.5:c.2723G>A
ENST00000524227.5:n.2639G>A
NM_000037.3:c.5245G>A	NP_000028.3:p.Glu1749Lys
NM_001142446.1:c.5368G>A	NP_001135918.1:p.Glu1790Lys
NM_020475.2:c.5245G>A	NP_065208.2:p.Glu1749Lys
NM_020476.2:c.5245G>A	NP_065209.2:p.Glu1749Lys
NM_020477.2:c.4759G>A	NP_065210.2:p.Glu1587Lys
XM_005273476.3:c.5368G>A	XP_005273533.1:p.Glu1790Lys
XM_011544490.1:c.5509G>A	XP_011542792.1:p.Glu1837Lys
XM_011544491.1:c.5509G>A	XP_011542793.1:p.Glu1837Lys
XM_011544492.1:c.5410G>A	XP_011542794.1:p.Glu1804Lys
XM_011544493.1:c.5509G>A	XP_011542795.1:p.Glu1837Lys
XM_011544494.1:c.5464G>A	XP_011542796.1:p.Glu1822Lys
XM_011544495.1:c.5464G>A	XP_011542797.1:p.Glu1822Lys
XM_011544496.1:c.5509G>A	XP_011542798.1:p.Glu1837Lys
XM_011544497.1:c.5344G>A	XP_011542799.1:p.Glu1782Lys
XM_011544498.1:c.5326G>A	XP_011542800.1:p.Glu1776Lys
XM_011544499.1:c.5509G>A	XP_011542801.1:p.Glu1837Lys
XM_011544500.1:c.5344G>A	XP_011542802.1:p.Glu1782Lys
XM_011544501.1:c.5344G>A	XP_011542803.1:p.Glu1782Lys
XM_011544502.1:c.5344G>A	XP_011542804.1:p.Glu1782Lys
XM_011544503.1:c.4978G>A	XP_011542805.1:p.Glu1660Lys
XM_011544504.1:c.4858G>A	XP_011542806.1:p.Glu1620Lys
XM_011544505.1:c.4858G>A	XP_011542807.1:p.Glu1620Lys
XM_011544506.1:c.*26G>A	XP_011542808.1:n.*26G>A
XR_949389.1:n.5100G>A
XM_005273476.4:c.5368G>A	XP_005273533.1:p.Glu1790Lys
XM_011544490.3:c.5509G>A	XP_011542792.1:p.Glu1837Lys
XM_011544491.3:c.5509G>A	XP_011542793.1:p.Glu1837Lys
XM_011544494.3:c.5464G>A	XP_011542796.1:p.Glu1822Lys
XM_011544495.3:c.5464G>A	XP_011542797.1:p.Glu1822Lys
XM_011544496.3:c.5509G>A	XP_011542798.1:p.Glu1837Lys
XM_011544500.2:c.5344G>A	XP_011542802.1:p.Glu1782Lys
XM_011544501.2:c.5344G>A	XP_011542803.1:p.Glu1782Lys
XM_011544502.2:c.5344G>A	XP_011542804.1:p.Glu1782Lys
XM_011544503.3:c.4978G>A	XP_011542805.1:p.Glu1660Lys
XM_011544504.2:c.4858G>A	XP_011542806.1:p.Glu1620Lys
XM_011544505.2:c.4858G>A	XP_011542807.1:p.Glu1620Lys
XM_017013319.2:c.5485G>A	XP_016868808.1:p.Glu1829Lys
XM_017013320.2:c.5509G>A	XP_016868809.1:p.Glu1837Lys
XM_017013321.1:c.5422G>A	XP_016868810.1:p.Glu1808Lys
XM_017013322.1:c.5413G>A	XP_016868811.1:p.Glu1805Lys
XM_017013323.1:c.5410G>A	XP_016868812.1:p.Glu1804Lys
XM_017013324.1:c.5368G>A	XP_016868813.1:p.Glu1790Lys
XM_017013325.1:c.5326G>A	XP_016868814.1:p.Glu1776Lys
XM_017013326.1:c.5281G>A	XP_016868815.1:p.Glu1761Lys
XM_017013327.2:c.5023G>A	XP_016868816.1:p.Glu1675Lys
XM_017013328.2:c.4978G>A	XP_016868817.1:p.Glu1660Lys
XM_017013329.1:c.4882G>A	XP_016868818.1:p.Glu1628Lys
XM_024447128.1:c.5314G>A	XP_024302896.1:p.Glu1772Lys
NM_000037.4:c.5245G>A MANE Select	NP_000028.3:p.Glu1749Lys
NM_001142446.2:c.5368G>A	NP_001135918.1:p.Glu1790Lys
NM_020475.3:c.5245G>A	NP_065208.2:p.Glu1749Lys
NM_020476.3:c.5245G>A	NP_065209.2:p.Glu1749Lys
NM_020477.3:c.4759G>A	NP_065210.2:p.Glu1587Lys