Canonical Allele Identifier: CA114339
Gene: ANK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 509
ClinVar RCV Id: RCV000000538
dbSNP Id: rs137852830

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41668498C>T , CM000670.2:g.41668498C>T GRCh38
NC_000008.10:g.41526016C>T , CM000670.1:g.41526016C>T GRCh37
NC_000008.9:g.41645173C>T NCBI36
NG_012820.1:g.233265G>A
NG_012820.2:g.233265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265709.14:c.5286G>A ENSP00000265709.8:p.Trp1762Ter
ENST00000705521.1:c.5382G>A ENSP00000516136.1:p.Trp1794Ter
ENST00000705522.1:c.5199G>A ENSP00000516137.1:p.Trp1733Ter
ENST00000265709.13:c.5286G>A ENSP00000265709.8:p.Trp1762Ter
ENST00000289734.13:c.5163G>A MANE Select ENSP00000289734.8:p.Trp1721Ter
ENST00000645531.1:c.1177G>A
ENST00000265709.12:c.5286G>A ENSP00000265709.8:p.Trp1762Ter
ENST00000289734.11:c.5163G>A ENSP00000289734.7:p.Trp1721Ter
ENST00000347528.8:c.5163G>A ENSP00000339620.4:p.Trp1721Ter
ENST00000518061.1:c.735G>A
ENST00000520299.5:c.2641G>A
ENST00000524227.5:n.2557G>A
NM_000037.3:c.5163G>A NP_000028.3:p.Trp1721Ter
NM_001142446.1:c.5286G>A NP_001135918.1:p.Trp1762Ter
NM_020475.2:c.5163G>A NP_065208.2:p.Trp1721Ter
NM_020476.2:c.5163G>A NP_065209.2:p.Trp1721Ter
NM_020477.2:c.4677G>A NP_065210.2:p.Trp1559Ter
XM_005273476.3:c.5286G>A XP_005273533.1:p.Trp1762Ter
XM_011544490.1:c.5427G>A XP_011542792.1:p.Trp1809Ter
XM_011544491.1:c.5427G>A XP_011542793.1:p.Trp1809Ter
XM_011544492.1:c.5328G>A XP_011542794.1:p.Trp1776Ter
XM_011544493.1:c.5427G>A XP_011542795.1:p.Trp1809Ter
XM_011544494.1:c.5382G>A XP_011542796.1:p.Trp1794Ter
XM_011544495.1:c.5382G>A XP_011542797.1:p.Trp1794Ter
XM_011544496.1:c.5427G>A XP_011542798.1:p.Trp1809Ter
XM_011544497.1:c.5262G>A XP_011542799.1:p.Trp1754Ter
XM_011544498.1:c.5244G>A XP_011542800.1:p.Trp1748Ter
XM_011544499.1:c.5427G>A XP_011542801.1:p.Trp1809Ter
XM_011544500.1:c.5262G>A XP_011542802.1:p.Trp1754Ter
XM_011544501.1:c.5262G>A XP_011542803.1:p.Trp1754Ter
XM_011544502.1:c.5262G>A XP_011542804.1:p.Trp1754Ter
XM_011544503.1:c.4896G>A XP_011542805.1:p.Trp1632Ter
XM_011544504.1:c.4776G>A XP_011542806.1:p.Trp1592Ter
XM_011544505.1:c.4776G>A XP_011542807.1:p.Trp1592Ter
XM_011544506.1:c.4987G>A XP_011542808.1:p.Ala1663Thr
XR_949389.1:n.5018G>A
XM_005273476.4:c.5286G>A XP_005273533.1:p.Trp1762Ter
XM_011544490.3:c.5427G>A XP_011542792.1:p.Trp1809Ter
XM_011544491.3:c.5427G>A XP_011542793.1:p.Trp1809Ter
XM_011544494.3:c.5382G>A XP_011542796.1:p.Trp1794Ter
XM_011544495.3:c.5382G>A XP_011542797.1:p.Trp1794Ter
XM_011544496.3:c.5427G>A XP_011542798.1:p.Trp1809Ter
XM_011544500.2:c.5262G>A XP_011542802.1:p.Trp1754Ter
XM_011544501.2:c.5262G>A XP_011542803.1:p.Trp1754Ter
XM_011544502.2:c.5262G>A XP_011542804.1:p.Trp1754Ter
XM_011544503.3:c.4896G>A XP_011542805.1:p.Trp1632Ter
XM_011544504.2:c.4776G>A XP_011542806.1:p.Trp1592Ter
XM_011544505.2:c.4776G>A XP_011542807.1:p.Trp1592Ter
XM_017013319.2:c.5403G>A XP_016868808.1:p.Trp1801Ter
XM_017013320.2:c.5427G>A XP_016868809.1:p.Trp1809Ter
XM_017013321.1:c.5340G>A XP_016868810.1:p.Trp1780Ter
XM_017013322.1:c.5331G>A XP_016868811.1:p.Trp1777Ter
XM_017013323.1:c.5328G>A XP_016868812.1:p.Trp1776Ter
XM_017013324.1:c.5286G>A XP_016868813.1:p.Trp1762Ter
XM_017013325.1:c.5244G>A XP_016868814.1:p.Trp1748Ter
XM_017013326.1:c.5199G>A XP_016868815.1:p.Trp1733Ter
XM_017013327.2:c.4941G>A XP_016868816.1:p.Trp1647Ter
XM_017013328.2:c.4896G>A XP_016868817.1:p.Trp1632Ter
XM_017013329.1:c.4800G>A XP_016868818.1:p.Trp1600Ter
XM_024447128.1:c.5232G>A XP_024302896.1:p.Trp1744Ter
NM_000037.4:c.5163G>A MANE Select NP_000028.3:p.Trp1721Ter
NM_001142446.2:c.5286G>A NP_001135918.1:p.Trp1762Ter
NM_020475.3:c.5163G>A NP_065208.2:p.Trp1721Ter
NM_020476.3:c.5163G>A NP_065209.2:p.Trp1721Ter
NM_020477.3:c.4677G>A NP_065210.2:p.Trp1559Ter