Canonical Allele Identifier: CA371058347
Community Standard Title: NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter)
Gene: ANK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41690530G>A , CM000670.2:g.41690530G>A GRCh38
NC_000008.10:g.41548048G>A , CM000670.1:g.41548048G>A GRCh37
NC_000008.9:g.41667205G>A NCBI36
NG_012820.1:g.211233C>T
NG_012820.2:g.211233C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000037.4:c.3928C>T MANE Select NP_000028.3:p.Gln1310Ter
ENST00000289734.13:c.3928C>T MANE Select ENSP00000289734.8:p.Gln1310Ter
NM_000037.3:c.3928C>T NP_000028.3:p.Gln1310Ter
NM_001142446.1:c.4051C>T NP_001135918.1:p.Gln1351Ter
NM_001142446.2:c.4051C>T NP_001135918.1:p.Gln1351Ter
NM_020475.2:c.3928C>T NP_065208.2:p.Gln1310Ter
NM_020475.3:c.3928C>T NP_065208.2:p.Gln1310Ter
NM_020476.2:c.3928C>T NP_065209.2:p.Gln1310Ter
NM_020476.3:c.3928C>T NP_065209.2:p.Gln1310Ter
NM_020477.2:c.3928C>T NP_065210.2:p.Gln1310Ter
NM_020477.3:c.3928C>T NP_065210.2:p.Gln1310Ter
ENST00000265709.12:c.4051C>T ENSP00000265709.8:p.Gln1351Ter
ENST00000265709.13:c.4051C>T ENSP00000265709.8:p.Gln1351Ter
ENST00000265709.14:c.4051C>T ENSP00000265709.8:p.Gln1351Ter
ENST00000289734.11:c.3928C>T ENSP00000289734.7:p.Gln1310Ter
ENST00000347528.8:c.3928C>T ENSP00000339620.4:p.Gln1310Ter
ENST00000520299.5:c.1892C>T
ENST00000524227.5:n.1411C>T
ENST00000645531.1:c.428C>T
ENST00000705521.1:c.4147C>T ENSP00000516136.1:p.Gln1383Ter
ENST00000705522.1:c.3964C>T ENSP00000516137.1:p.Gln1322Ter
XM_005273476.3:c.4051C>T XP_005273533.1:p.Gln1351Ter
XM_005273476.4:c.4051C>T XP_005273533.1:p.Gln1351Ter
XM_011544490.1:c.4147C>T XP_011542792.1:p.Gln1383Ter
XM_011544490.3:c.4147C>T XP_011542792.1:p.Gln1383Ter
XM_011544491.1:c.4147C>T XP_011542793.1:p.Gln1383Ter
XM_011544491.3:c.4147C>T XP_011542793.1:p.Gln1383Ter
XM_011544492.1:c.4048C>T XP_011542794.1:p.Gln1350Ter
XM_011544493.1:c.4147C>T XP_011542795.1:p.Gln1383Ter
XM_011544494.1:c.4147C>T XP_011542796.1:p.Gln1383Ter
XM_011544494.3:c.4147C>T XP_011542796.1:p.Gln1383Ter
XM_011544495.1:c.4147C>T XP_011542797.1:p.Gln1383Ter
XM_011544495.3:c.4147C>T XP_011542797.1:p.Gln1383Ter
XM_011544496.1:c.4147C>T XP_011542798.1:p.Gln1383Ter
XM_011544496.3:c.4147C>T XP_011542798.1:p.Gln1383Ter
XM_011544497.1:c.4027C>T XP_011542799.1:p.Gln1343Ter
XM_011544498.1:c.3964C>T XP_011542800.1:p.Gln1322Ter
XM_011544499.1:c.4147C>T XP_011542801.1:p.Gln1383Ter
XM_011544500.1:c.4027C>T XP_011542802.1:p.Gln1343Ter
XM_011544500.2:c.4027C>T XP_011542802.1:p.Gln1343Ter
XM_011544501.1:c.4027C>T XP_011542803.1:p.Gln1343Ter
XM_011544501.2:c.4027C>T XP_011542803.1:p.Gln1343Ter
XM_011544502.1:c.4027C>T XP_011542804.1:p.Gln1343Ter
XM_011544502.2:c.4027C>T XP_011542804.1:p.Gln1343Ter
XM_011544503.1:c.4147C>T XP_011542805.1:p.Gln1383Ter
XM_011544503.3:c.4147C>T XP_011542805.1:p.Gln1383Ter
XM_011544504.1:c.4027C>T XP_011542806.1:p.Gln1343Ter
XM_011544504.2:c.4027C>T XP_011542806.1:p.Gln1343Ter
XM_011544505.1:c.4027C>T XP_011542807.1:p.Gln1343Ter
XM_011544505.2:c.4027C>T XP_011542807.1:p.Gln1343Ter
XM_011544506.1:c.4147C>T XP_011542808.1:p.Gln1383Ter
XM_017013319.2:c.4123C>T XP_016868808.1:p.Gln1375Ter
XM_017013320.2:c.4147C>T XP_016868809.1:p.Gln1383Ter
XM_017013321.1:c.4060C>T XP_016868810.1:p.Gln1354Ter
XM_017013322.1:c.4051C>T XP_016868811.1:p.Gln1351Ter
XM_017013323.1:c.4048C>T XP_016868812.1:p.Gln1350Ter
XM_017013324.1:c.4051C>T XP_016868813.1:p.Gln1351Ter
XM_017013325.1:c.3964C>T XP_016868814.1:p.Gln1322Ter
XM_017013326.1:c.3964C>T XP_016868815.1:p.Gln1322Ter
XM_017013327.2:c.4147C>T XP_016868816.1:p.Gln1383Ter
XM_017013328.2:c.4147C>T XP_016868817.1:p.Gln1383Ter
XM_017013329.1:c.4051C>T XP_016868818.1:p.Gln1351Ter
XM_024447128.1:c.3952C>T XP_024302896.1:p.Gln1318Ter
XR_949389.1:n.4166C>T