Canonical Allele Identifier: CA371052272

Gene: ANK1

Linked Data

• MyVariant Identifiers: chr8:g.41526078G>A (hg19) ; chr8:g.41668560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668560G>A , CM000670.2:g.41668560G>A	GRCh38
NC_000008.10:g.41526078G>A , CM000670.1:g.41526078G>A	GRCh37
NC_000008.9:g.41645235G>A	NCBI36
NG_012820.1:g.233203C>T
NG_012820.2:g.233203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5224C>T	ENSP00000265709.8:p.Gln1742Ter
ENST00000705521.1:c.5320C>T	ENSP00000516136.1:p.Gln1774Ter
ENST00000705522.1:c.5137C>T	ENSP00000516137.1:p.Gln1713Ter
ENST00000265709.13:c.5224C>T	ENSP00000265709.8:p.Gln1742Ter
ENST00000289734.13:c.5101C>T MANE Select	ENSP00000289734.8:p.Gln1701Ter
ENST00000645531.1:c.1115C>T
ENST00000265709.12:c.5224C>T	ENSP00000265709.8:p.Gln1742Ter
ENST00000289734.11:c.5101C>T	ENSP00000289734.7:p.Gln1701Ter
ENST00000347528.8:c.5101C>T	ENSP00000339620.4:p.Gln1701Ter
ENST00000518061.1:c.673C>T
ENST00000520299.5:c.2579C>T
ENST00000524227.5:n.2495C>T
NM_000037.3:c.5101C>T	NP_000028.3:p.Gln1701Ter
NM_001142446.1:c.5224C>T	NP_001135918.1:p.Gln1742Ter
NM_020475.2:c.5101C>T	NP_065208.2:p.Gln1701Ter
NM_020476.2:c.5101C>T	NP_065209.2:p.Gln1701Ter
NM_020477.2:c.4615C>T	NP_065210.2:p.Gln1539Ter
XM_005273476.3:c.5224C>T	XP_005273533.1:p.Gln1742Ter
XM_011544490.1:c.5365C>T	XP_011542792.1:p.Gln1789Ter
XM_011544491.1:c.5365C>T	XP_011542793.1:p.Gln1789Ter
XM_011544492.1:c.5266C>T	XP_011542794.1:p.Gln1756Ter
XM_011544493.1:c.5365C>T	XP_011542795.1:p.Gln1789Ter
XM_011544494.1:c.5320C>T	XP_011542796.1:p.Gln1774Ter
XM_011544495.1:c.5320C>T	XP_011542797.1:p.Gln1774Ter
XM_011544496.1:c.5365C>T	XP_011542798.1:p.Gln1789Ter
XM_011544497.1:c.5200C>T	XP_011542799.1:p.Gln1734Ter
XM_011544498.1:c.5182C>T	XP_011542800.1:p.Gln1728Ter
XM_011544499.1:c.5365C>T	XP_011542801.1:p.Gln1789Ter
XM_011544500.1:c.5200C>T	XP_011542802.1:p.Gln1734Ter
XM_011544501.1:c.5200C>T	XP_011542803.1:p.Gln1734Ter
XM_011544502.1:c.5200C>T	XP_011542804.1:p.Gln1734Ter
XM_011544503.1:c.4834C>T	XP_011542805.1:p.Gln1612Ter
XM_011544504.1:c.4714C>T	XP_011542806.1:p.Gln1572Ter
XM_011544505.1:c.4714C>T	XP_011542807.1:p.Gln1572Ter
XM_011544506.1:c.4925C>T	XP_011542808.1:p.Ala1642Val
XR_949389.1:n.4956C>T
XM_005273476.4:c.5224C>T	XP_005273533.1:p.Gln1742Ter
XM_011544490.3:c.5365C>T	XP_011542792.1:p.Gln1789Ter
XM_011544491.3:c.5365C>T	XP_011542793.1:p.Gln1789Ter
XM_011544494.3:c.5320C>T	XP_011542796.1:p.Gln1774Ter
XM_011544495.3:c.5320C>T	XP_011542797.1:p.Gln1774Ter
XM_011544496.3:c.5365C>T	XP_011542798.1:p.Gln1789Ter
XM_011544500.2:c.5200C>T	XP_011542802.1:p.Gln1734Ter
XM_011544501.2:c.5200C>T	XP_011542803.1:p.Gln1734Ter
XM_011544502.2:c.5200C>T	XP_011542804.1:p.Gln1734Ter
XM_011544503.3:c.4834C>T	XP_011542805.1:p.Gln1612Ter
XM_011544504.2:c.4714C>T	XP_011542806.1:p.Gln1572Ter
XM_011544505.2:c.4714C>T	XP_011542807.1:p.Gln1572Ter
XM_017013319.2:c.5341C>T	XP_016868808.1:p.Gln1781Ter
XM_017013320.2:c.5365C>T	XP_016868809.1:p.Gln1789Ter
XM_017013321.1:c.5278C>T	XP_016868810.1:p.Gln1760Ter
XM_017013322.1:c.5269C>T	XP_016868811.1:p.Gln1757Ter
XM_017013323.1:c.5266C>T	XP_016868812.1:p.Gln1756Ter
XM_017013324.1:c.5224C>T	XP_016868813.1:p.Gln1742Ter
XM_017013325.1:c.5182C>T	XP_016868814.1:p.Gln1728Ter
XM_017013326.1:c.5137C>T	XP_016868815.1:p.Gln1713Ter
XM_017013327.2:c.4879C>T	XP_016868816.1:p.Gln1627Ter
XM_017013328.2:c.4834C>T	XP_016868817.1:p.Gln1612Ter
XM_017013329.1:c.4738C>T	XP_016868818.1:p.Gln1580Ter
XM_024447128.1:c.5170C>T	XP_024302896.1:p.Gln1724Ter
NM_000037.4:c.5101C>T MANE Select	NP_000028.3:p.Gln1701Ter
NM_001142446.2:c.5224C>T	NP_001135918.1:p.Gln1742Ter
NM_020475.3:c.5101C>T	NP_065208.2:p.Gln1701Ter
NM_020476.3:c.5101C>T	NP_065209.2:p.Gln1701Ter
NM_020477.3:c.4615C>T	NP_065210.2:p.Gln1539Ter