Canonical Allele Identifier: CA371051909
Gene: ANK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.41526017C>T (hg19) chr8:g.41668499C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41668499C>T , CM000670.2:g.41668499C>T GRCh38
NC_000008.10:g.41526017C>T , CM000670.1:g.41526017C>T GRCh37
NC_000008.9:g.41645174C>T NCBI36
NG_012820.1:g.233264G>A
NG_012820.2:g.233264G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265709.14:c.5285G>A ENSP00000265709.8:p.Trp1762Ter
ENST00000705521.1:c.5381G>A ENSP00000516136.1:p.Trp1794Ter
ENST00000705522.1:c.5198G>A ENSP00000516137.1:p.Trp1733Ter
ENST00000265709.13:c.5285G>A ENSP00000265709.8:p.Trp1762Ter
ENST00000289734.13:c.5162G>A MANE Select ENSP00000289734.8:p.Trp1721Ter
ENST00000645531.1:c.1176G>A
ENST00000265709.12:c.5285G>A ENSP00000265709.8:p.Trp1762Ter
ENST00000289734.11:c.5162G>A ENSP00000289734.7:p.Trp1721Ter
ENST00000347528.8:c.5162G>A ENSP00000339620.4:p.Trp1721Ter
ENST00000518061.1:c.734G>A
ENST00000520299.5:c.2640G>A
ENST00000524227.5:n.2556G>A
NM_000037.3:c.5162G>A NP_000028.3:p.Trp1721Ter
NM_001142446.1:c.5285G>A NP_001135918.1:p.Trp1762Ter
NM_020475.2:c.5162G>A NP_065208.2:p.Trp1721Ter
NM_020476.2:c.5162G>A NP_065209.2:p.Trp1721Ter
NM_020477.2:c.4676G>A NP_065210.2:p.Trp1559Ter
XM_005273476.3:c.5285G>A XP_005273533.1:p.Trp1762Ter
XM_011544490.1:c.5426G>A XP_011542792.1:p.Trp1809Ter
XM_011544491.1:c.5426G>A XP_011542793.1:p.Trp1809Ter
XM_011544492.1:c.5327G>A XP_011542794.1:p.Trp1776Ter
XM_011544493.1:c.5426G>A XP_011542795.1:p.Trp1809Ter
XM_011544494.1:c.5381G>A XP_011542796.1:p.Trp1794Ter
XM_011544495.1:c.5381G>A XP_011542797.1:p.Trp1794Ter
XM_011544496.1:c.5426G>A XP_011542798.1:p.Trp1809Ter
XM_011544497.1:c.5261G>A XP_011542799.1:p.Trp1754Ter
XM_011544498.1:c.5243G>A XP_011542800.1:p.Trp1748Ter
XM_011544499.1:c.5426G>A XP_011542801.1:p.Trp1809Ter
XM_011544500.1:c.5261G>A XP_011542802.1:p.Trp1754Ter
XM_011544501.1:c.5261G>A XP_011542803.1:p.Trp1754Ter
XM_011544502.1:c.5261G>A XP_011542804.1:p.Trp1754Ter
XM_011544503.1:c.4895G>A XP_011542805.1:p.Trp1632Ter
XM_011544504.1:c.4775G>A XP_011542806.1:p.Trp1592Ter
XM_011544505.1:c.4775G>A XP_011542807.1:p.Trp1592Ter
XM_011544506.1:c.4986G>A XP_011542808.1:p.Leu1662=
XR_949389.1:n.5017G>A
XM_005273476.4:c.5285G>A XP_005273533.1:p.Trp1762Ter
XM_011544490.3:c.5426G>A XP_011542792.1:p.Trp1809Ter
XM_011544491.3:c.5426G>A XP_011542793.1:p.Trp1809Ter
XM_011544494.3:c.5381G>A XP_011542796.1:p.Trp1794Ter
XM_011544495.3:c.5381G>A XP_011542797.1:p.Trp1794Ter
XM_011544496.3:c.5426G>A XP_011542798.1:p.Trp1809Ter
XM_011544500.2:c.5261G>A XP_011542802.1:p.Trp1754Ter
XM_011544501.2:c.5261G>A XP_011542803.1:p.Trp1754Ter
XM_011544502.2:c.5261G>A XP_011542804.1:p.Trp1754Ter
XM_011544503.3:c.4895G>A XP_011542805.1:p.Trp1632Ter
XM_011544504.2:c.4775G>A XP_011542806.1:p.Trp1592Ter
XM_011544505.2:c.4775G>A XP_011542807.1:p.Trp1592Ter
XM_017013319.2:c.5402G>A XP_016868808.1:p.Trp1801Ter
XM_017013320.2:c.5426G>A XP_016868809.1:p.Trp1809Ter
XM_017013321.1:c.5339G>A XP_016868810.1:p.Trp1780Ter
XM_017013322.1:c.5330G>A XP_016868811.1:p.Trp1777Ter
XM_017013323.1:c.5327G>A XP_016868812.1:p.Trp1776Ter
XM_017013324.1:c.5285G>A XP_016868813.1:p.Trp1762Ter
XM_017013325.1:c.5243G>A XP_016868814.1:p.Trp1748Ter
XM_017013326.1:c.5198G>A XP_016868815.1:p.Trp1733Ter
XM_017013327.2:c.4940G>A XP_016868816.1:p.Trp1647Ter
XM_017013328.2:c.4895G>A XP_016868817.1:p.Trp1632Ter
XM_017013329.1:c.4799G>A XP_016868818.1:p.Trp1600Ter
XM_024447128.1:c.5231G>A XP_024302896.1:p.Trp1744Ter
NM_000037.4:c.5162G>A MANE Select NP_000028.3:p.Trp1721Ter
NM_001142446.2:c.5285G>A NP_001135918.1:p.Trp1762Ter
NM_020475.3:c.5162G>A NP_065208.2:p.Trp1721Ter
NM_020476.3:c.5162G>A NP_065209.2:p.Trp1721Ter
NM_020477.3:c.4676G>A NP_065210.2:p.Trp1559Ter
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