Canonical Allele Identifier: CA371051564

Gene: ANK1

Linked Data

• MyVariant Identifiers: chr8:g.41525955G>T (hg19) ; chr8:g.41668437G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668437G>T , CM000670.2:g.41668437G>T	GRCh38
NC_000008.10:g.41525955G>T , CM000670.1:g.41525955G>T	GRCh37
NC_000008.9:g.41645112G>T	NCBI36
NG_012820.1:g.233326C>A
NG_012820.2:g.233326C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5347C>A	ENSP00000265709.8:p.Leu1783Ile
ENST00000705521.1:c.5443C>A	ENSP00000516136.1:p.Leu1815Ile
ENST00000705522.1:c.5260C>A	ENSP00000516137.1:p.Leu1754Ile
ENST00000265709.13:c.5347C>A	ENSP00000265709.8:p.Leu1783Ile
ENST00000289734.13:c.5224C>A MANE Select	ENSP00000289734.8:p.Leu1742Ile
ENST00000645531.1:c.1238C>A
ENST00000265709.12:c.5347C>A	ENSP00000265709.8:p.Leu1783Ile
ENST00000289734.11:c.5224C>A	ENSP00000289734.7:p.Leu1742Ile
ENST00000347528.8:c.5224C>A	ENSP00000339620.4:p.Leu1742Ile
ENST00000518061.1:c.796C>A
ENST00000520299.5:c.2702C>A
ENST00000524227.5:n.2618C>A
NM_000037.3:c.5224C>A	NP_000028.3:p.Leu1742Ile
NM_001142446.1:c.5347C>A	NP_001135918.1:p.Leu1783Ile
NM_020475.2:c.5224C>A	NP_065208.2:p.Leu1742Ile
NM_020476.2:c.5224C>A	NP_065209.2:p.Leu1742Ile
NM_020477.2:c.4738C>A	NP_065210.2:p.Leu1580Ile
XM_005273476.3:c.5347C>A	XP_005273533.1:p.Leu1783Ile
XM_011544490.1:c.5488C>A	XP_011542792.1:p.Leu1830Ile
XM_011544491.1:c.5488C>A	XP_011542793.1:p.Leu1830Ile
XM_011544492.1:c.5389C>A	XP_011542794.1:p.Leu1797Ile
XM_011544493.1:c.5488C>A	XP_011542795.1:p.Leu1830Ile
XM_011544494.1:c.5443C>A	XP_011542796.1:p.Leu1815Ile
XM_011544495.1:c.5443C>A	XP_011542797.1:p.Leu1815Ile
XM_011544496.1:c.5488C>A	XP_011542798.1:p.Leu1830Ile
XM_011544497.1:c.5323C>A	XP_011542799.1:p.Leu1775Ile
XM_011544498.1:c.5305C>A	XP_011542800.1:p.Leu1769Ile
XM_011544499.1:c.5488C>A	XP_011542801.1:p.Leu1830Ile
XM_011544500.1:c.5323C>A	XP_011542802.1:p.Leu1775Ile
XM_011544501.1:c.5323C>A	XP_011542803.1:p.Leu1775Ile
XM_011544502.1:c.5323C>A	XP_011542804.1:p.Leu1775Ile
XM_011544503.1:c.4957C>A	XP_011542805.1:p.Leu1653Ile
XM_011544504.1:c.4837C>A	XP_011542806.1:p.Leu1613Ile
XM_011544505.1:c.4837C>A	XP_011542807.1:p.Leu1613Ile
XM_011544506.1:c.*5C>A	XP_011542808.1:n.*5C>A
XR_949389.1:n.5079C>A
XM_005273476.4:c.5347C>A	XP_005273533.1:p.Leu1783Ile
XM_011544490.3:c.5488C>A	XP_011542792.1:p.Leu1830Ile
XM_011544491.3:c.5488C>A	XP_011542793.1:p.Leu1830Ile
XM_011544494.3:c.5443C>A	XP_011542796.1:p.Leu1815Ile
XM_011544495.3:c.5443C>A	XP_011542797.1:p.Leu1815Ile
XM_011544496.3:c.5488C>A	XP_011542798.1:p.Leu1830Ile
XM_011544500.2:c.5323C>A	XP_011542802.1:p.Leu1775Ile
XM_011544501.2:c.5323C>A	XP_011542803.1:p.Leu1775Ile
XM_011544502.2:c.5323C>A	XP_011542804.1:p.Leu1775Ile
XM_011544503.3:c.4957C>A	XP_011542805.1:p.Leu1653Ile
XM_011544504.2:c.4837C>A	XP_011542806.1:p.Leu1613Ile
XM_011544505.2:c.4837C>A	XP_011542807.1:p.Leu1613Ile
XM_017013319.2:c.5464C>A	XP_016868808.1:p.Leu1822Ile
XM_017013320.2:c.5488C>A	XP_016868809.1:p.Leu1830Ile
XM_017013321.1:c.5401C>A	XP_016868810.1:p.Leu1801Ile
XM_017013322.1:c.5392C>A	XP_016868811.1:p.Leu1798Ile
XM_017013323.1:c.5389C>A	XP_016868812.1:p.Leu1797Ile
XM_017013324.1:c.5347C>A	XP_016868813.1:p.Leu1783Ile
XM_017013325.1:c.5305C>A	XP_016868814.1:p.Leu1769Ile
XM_017013326.1:c.5260C>A	XP_016868815.1:p.Leu1754Ile
XM_017013327.2:c.5002C>A	XP_016868816.1:p.Leu1668Ile
XM_017013328.2:c.4957C>A	XP_016868817.1:p.Leu1653Ile
XM_017013329.1:c.4861C>A	XP_016868818.1:p.Leu1621Ile
XM_024447128.1:c.5293C>A	XP_024302896.1:p.Leu1765Ile
NM_000037.4:c.5224C>A MANE Select	NP_000028.3:p.Leu1742Ile
NM_001142446.2:c.5347C>A	NP_001135918.1:p.Leu1783Ile
NM_020475.3:c.5224C>A	NP_065208.2:p.Leu1742Ile
NM_020476.3:c.5224C>A	NP_065209.2:p.Leu1742Ile
NM_020477.3:c.4738C>A	NP_065210.2:p.Leu1580Ile