Canonical Allele Identifier: CA371051676

Gene: ANK1

Linked Data

• dbSNP Id: rs1811245187
• gnomAD v4: 8-41668461-C-T
• MyVariant Identifiers: chr8:g.41525979C>T (hg19) ; chr8:g.41668461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668461C>T , CM000670.2:g.41668461C>T	GRCh38
NC_000008.10:g.41525979C>T , CM000670.1:g.41525979C>T	GRCh37
NC_000008.9:g.41645136C>T	NCBI36
NG_012820.1:g.233302G>A
NG_012820.2:g.233302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5323G>A	ENSP00000265709.8:p.Gly1775Arg
ENST00000705521.1:c.5419G>A	ENSP00000516136.1:p.Gly1807Arg
ENST00000705522.1:c.5236G>A	ENSP00000516137.1:p.Gly1746Arg
ENST00000265709.13:c.5323G>A	ENSP00000265709.8:p.Gly1775Arg
ENST00000289734.13:c.5200G>A MANE Select	ENSP00000289734.8:p.Gly1734Arg
ENST00000645531.1:c.1214G>A
ENST00000265709.12:c.5323G>A	ENSP00000265709.8:p.Gly1775Arg
ENST00000289734.11:c.5200G>A	ENSP00000289734.7:p.Gly1734Arg
ENST00000347528.8:c.5200G>A	ENSP00000339620.4:p.Gly1734Arg
ENST00000518061.1:c.772G>A
ENST00000520299.5:c.2678G>A
ENST00000524227.5:n.2594G>A
NM_000037.3:c.5200G>A	NP_000028.3:p.Gly1734Arg
NM_001142446.1:c.5323G>A	NP_001135918.1:p.Gly1775Arg
NM_020475.2:c.5200G>A	NP_065208.2:p.Gly1734Arg
NM_020476.2:c.5200G>A	NP_065209.2:p.Gly1734Arg
NM_020477.2:c.4714G>A	NP_065210.2:p.Gly1572Arg
XM_005273476.3:c.5323G>A	XP_005273533.1:p.Gly1775Arg
XM_011544490.1:c.5464G>A	XP_011542792.1:p.Gly1822Arg
XM_011544491.1:c.5464G>A	XP_011542793.1:p.Gly1822Arg
XM_011544492.1:c.5365G>A	XP_011542794.1:p.Gly1789Arg
XM_011544493.1:c.5464G>A	XP_011542795.1:p.Gly1822Arg
XM_011544494.1:c.5419G>A	XP_011542796.1:p.Gly1807Arg
XM_011544495.1:c.5419G>A	XP_011542797.1:p.Gly1807Arg
XM_011544496.1:c.5464G>A	XP_011542798.1:p.Gly1822Arg
XM_011544497.1:c.5299G>A	XP_011542799.1:p.Gly1767Arg
XM_011544498.1:c.5281G>A	XP_011542800.1:p.Gly1761Arg
XM_011544499.1:c.5464G>A	XP_011542801.1:p.Gly1822Arg
XM_011544500.1:c.5299G>A	XP_011542802.1:p.Gly1767Arg
XM_011544501.1:c.5299G>A	XP_011542803.1:p.Gly1767Arg
XM_011544502.1:c.5299G>A	XP_011542804.1:p.Gly1767Arg
XM_011544503.1:c.4933G>A	XP_011542805.1:p.Gly1645Arg
XM_011544504.1:c.4813G>A	XP_011542806.1:p.Gly1605Arg
XM_011544505.1:c.4813G>A	XP_011542807.1:p.Gly1605Arg
XM_011544506.1:c.5024G>A	XP_011542808.1:p.Gly1675Glu
XR_949389.1:n.5055G>A
XM_005273476.4:c.5323G>A	XP_005273533.1:p.Gly1775Arg
XM_011544490.3:c.5464G>A	XP_011542792.1:p.Gly1822Arg
XM_011544491.3:c.5464G>A	XP_011542793.1:p.Gly1822Arg
XM_011544494.3:c.5419G>A	XP_011542796.1:p.Gly1807Arg
XM_011544495.3:c.5419G>A	XP_011542797.1:p.Gly1807Arg
XM_011544496.3:c.5464G>A	XP_011542798.1:p.Gly1822Arg
XM_011544500.2:c.5299G>A	XP_011542802.1:p.Gly1767Arg
XM_011544501.2:c.5299G>A	XP_011542803.1:p.Gly1767Arg
XM_011544502.2:c.5299G>A	XP_011542804.1:p.Gly1767Arg
XM_011544503.3:c.4933G>A	XP_011542805.1:p.Gly1645Arg
XM_011544504.2:c.4813G>A	XP_011542806.1:p.Gly1605Arg
XM_011544505.2:c.4813G>A	XP_011542807.1:p.Gly1605Arg
XM_017013319.2:c.5440G>A	XP_016868808.1:p.Gly1814Arg
XM_017013320.2:c.5464G>A	XP_016868809.1:p.Gly1822Arg
XM_017013321.1:c.5377G>A	XP_016868810.1:p.Gly1793Arg
XM_017013322.1:c.5368G>A	XP_016868811.1:p.Gly1790Arg
XM_017013323.1:c.5365G>A	XP_016868812.1:p.Gly1789Arg
XM_017013324.1:c.5323G>A	XP_016868813.1:p.Gly1775Arg
XM_017013325.1:c.5281G>A	XP_016868814.1:p.Gly1761Arg
XM_017013326.1:c.5236G>A	XP_016868815.1:p.Gly1746Arg
XM_017013327.2:c.4978G>A	XP_016868816.1:p.Gly1660Arg
XM_017013328.2:c.4933G>A	XP_016868817.1:p.Gly1645Arg
XM_017013329.1:c.4837G>A	XP_016868818.1:p.Gly1613Arg
XM_024447128.1:c.5269G>A	XP_024302896.1:p.Gly1757Arg
NM_000037.4:c.5200G>A MANE Select	NP_000028.3:p.Gly1734Arg
NM_001142446.2:c.5323G>A	NP_001135918.1:p.Gly1775Arg
NM_020475.3:c.5200G>A	NP_065208.2:p.Gly1734Arg
NM_020476.3:c.5200G>A	NP_065209.2:p.Gly1734Arg
NM_020477.3:c.4714G>A	NP_065210.2:p.Gly1572Arg