Canonical Allele Identifier: CA371057279
Community Standard Title: NM_000037.4(ANK1):c.4391-1G>C
Gene: ANK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41684691C>G , CM000670.2:g.41684691C>G GRCh38
NC_000008.10:g.41542209C>G , CM000670.1:g.41542209C>G GRCh37
NC_000008.9:g.41661366C>G NCBI36
NG_012820.1:g.217072G>C
NG_012820.2:g.217072G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000037.4:c.4391-1G>C MANE Select NP_000028.3:n.4391-1G>C
ENST00000289734.13:c.4391-1G>C MANE Select ENSP00000289734.8:n.4391-1G>C
NM_000037.3:c.4391-1G>C NP_000028.3:n.4391-1G>C
NM_001142446.1:c.4514-1G>C NP_001135918.1:n.4514-1G>C
NM_001142446.2:c.4514-1G>C NP_001135918.1:n.4514-1G>C
NM_020475.2:c.4391-1G>C NP_065208.2:n.4391-1G>C
NM_020475.3:c.4391-1G>C NP_065208.2:n.4391-1G>C
NM_020476.2:c.4391-1G>C NP_065209.2:n.4391-1G>C
NM_020476.3:c.4391-1G>C NP_065209.2:n.4391-1G>C
NM_020477.2:c.4391-1G>C NP_065210.2:n.4391-1G>C
NM_020477.3:c.4391-1G>C NP_065210.2:n.4391-1G>C
ENST00000265709.12:c.4514-1G>C ENSP00000265709.8:n.4514-1G>C
ENST00000265709.13:c.4514-1G>C ENSP00000265709.8:n.4514-1G>C
ENST00000265709.14:c.4514-1G>C ENSP00000265709.8:n.4514-1G>C
ENST00000289734.11:c.4391-1G>C ENSP00000289734.7:n.4391-1G>C
ENST00000347528.8:c.4391-1G>C ENSP00000339620.4:n.4391-1G>C
ENST00000518061.1:c.346-1G>C
ENST00000520299.5:c.2355-1G>C
ENST00000524227.5:n.1874-1G>C
ENST00000645531.1:c.891-1G>C
ENST00000705521.1:c.4610-1G>C ENSP00000516136.1:n.4610-1G>C
ENST00000705522.1:c.4427-1G>C ENSP00000516137.1:n.4427-1G>C
XM_005273476.3:c.4514-1G>C XP_005273533.1:n.4514-1G>C
XM_005273476.4:c.4514-1G>C XP_005273533.1:n.4514-1G>C
XM_011544490.1:c.4610-1G>C XP_011542792.1:n.4610-1G>C
XM_011544490.3:c.4610-1G>C XP_011542792.1:n.4610-1G>C
XM_011544491.1:c.4610-1G>C XP_011542793.1:n.4610-1G>C
XM_011544491.3:c.4610-1G>C XP_011542793.1:n.4610-1G>C
XM_011544492.1:c.4511-1G>C XP_011542794.1:n.4511-1G>C
XM_011544493.1:c.4610-1G>C XP_011542795.1:n.4610-1G>C
XM_011544494.1:c.4610-1G>C XP_011542796.1:n.4610-1G>C
XM_011544494.3:c.4610-1G>C XP_011542796.1:n.4610-1G>C
XM_011544495.1:c.4610-1G>C XP_011542797.1:n.4610-1G>C
XM_011544495.3:c.4610-1G>C XP_011542797.1:n.4610-1G>C
XM_011544496.1:c.4610-1G>C XP_011542798.1:n.4610-1G>C
XM_011544496.3:c.4610-1G>C XP_011542798.1:n.4610-1G>C
XM_011544497.1:c.4490-1G>C XP_011542799.1:n.4490-1G>C
XM_011544498.1:c.4427-1G>C XP_011542800.1:n.4427-1G>C
XM_011544499.1:c.4610-1G>C XP_011542801.1:n.4610-1G>C
XM_011544500.1:c.4490-1G>C XP_011542802.1:n.4490-1G>C
XM_011544500.2:c.4490-1G>C XP_011542802.1:n.4490-1G>C
XM_011544501.1:c.4490-1G>C XP_011542803.1:n.4490-1G>C
XM_011544501.2:c.4490-1G>C XP_011542803.1:n.4490-1G>C
XM_011544502.1:c.4490-1G>C XP_011542804.1:n.4490-1G>C
XM_011544502.2:c.4490-1G>C XP_011542804.1:n.4490-1G>C
XM_011544503.1:c.4610-1G>C XP_011542805.1:n.4610-1G>C
XM_011544503.3:c.4610-1G>C XP_011542805.1:n.4610-1G>C
XM_011544504.1:c.4490-1G>C XP_011542806.1:n.4490-1G>C
XM_011544504.2:c.4490-1G>C XP_011542806.1:n.4490-1G>C
XM_011544505.1:c.4490-1G>C XP_011542807.1:n.4490-1G>C
XM_011544505.2:c.4490-1G>C XP_011542807.1:n.4490-1G>C
XM_011544506.1:c.4610-1G>C XP_011542808.1:n.4610-1G>C
XM_017013319.2:c.4586-1G>C XP_016868808.1:n.4586-1G>C
XM_017013320.2:c.4610-1G>C XP_016868809.1:n.4610-1G>C
XM_017013321.1:c.4523-1G>C XP_016868810.1:n.4523-1G>C
XM_017013322.1:c.4514-1G>C XP_016868811.1:n.4514-1G>C
XM_017013323.1:c.4511-1G>C XP_016868812.1:n.4511-1G>C
XM_017013324.1:c.4514-1G>C XP_016868813.1:n.4514-1G>C
XM_017013325.1:c.4427-1G>C XP_016868814.1:n.4427-1G>C
XM_017013326.1:c.4427-1G>C XP_016868815.1:n.4427-1G>C
XM_017013327.2:c.4610-1G>C XP_016868816.1:n.4610-1G>C
XM_017013328.2:c.4610-1G>C XP_016868817.1:n.4610-1G>C
XM_017013329.1:c.4514-1G>C XP_016868818.1:n.4514-1G>C
XM_024447128.1:c.4415-1G>C XP_024302896.1:n.4415-1G>C
XR_949389.1:n.4629-1G>C