Canonical Allele Identifier: CA371052116

Gene: ANK1

Linked Data

• gnomAD v4: 8-41668533-C-A
• MyVariant Identifiers: chr8:g.41526051C>A (hg19) ; chr8:g.41668533C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668533C>A , CM000670.2:g.41668533C>A	GRCh38
NC_000008.10:g.41526051C>A , CM000670.1:g.41526051C>A	GRCh37
NC_000008.9:g.41645208C>A	NCBI36
NG_012820.1:g.233230G>T
NG_012820.2:g.233230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5251G>T	ENSP00000265709.8:p.Val1751Phe
ENST00000705521.1:c.5347G>T	ENSP00000516136.1:p.Val1783Phe
ENST00000705522.1:c.5164G>T	ENSP00000516137.1:p.Val1722Phe
ENST00000265709.13:c.5251G>T	ENSP00000265709.8:p.Val1751Phe
ENST00000289734.13:c.5128G>T MANE Select	ENSP00000289734.8:p.Val1710Phe
ENST00000645531.1:c.1142G>T
ENST00000265709.12:c.5251G>T	ENSP00000265709.8:p.Val1751Phe
ENST00000289734.11:c.5128G>T	ENSP00000289734.7:p.Val1710Phe
ENST00000347528.8:c.5128G>T	ENSP00000339620.4:p.Val1710Phe
ENST00000518061.1:c.700G>T
ENST00000520299.5:c.2606G>T
ENST00000524227.5:n.2522G>T
NM_000037.3:c.5128G>T	NP_000028.3:p.Val1710Phe
NM_001142446.1:c.5251G>T	NP_001135918.1:p.Val1751Phe
NM_020475.2:c.5128G>T	NP_065208.2:p.Val1710Phe
NM_020476.2:c.5128G>T	NP_065209.2:p.Val1710Phe
NM_020477.2:c.4642G>T	NP_065210.2:p.Val1548Phe
XM_005273476.3:c.5251G>T	XP_005273533.1:p.Val1751Phe
XM_011544490.1:c.5392G>T	XP_011542792.1:p.Val1798Phe
XM_011544491.1:c.5392G>T	XP_011542793.1:p.Val1798Phe
XM_011544492.1:c.5293G>T	XP_011542794.1:p.Val1765Phe
XM_011544493.1:c.5392G>T	XP_011542795.1:p.Val1798Phe
XM_011544494.1:c.5347G>T	XP_011542796.1:p.Val1783Phe
XM_011544495.1:c.5347G>T	XP_011542797.1:p.Val1783Phe
XM_011544496.1:c.5392G>T	XP_011542798.1:p.Val1798Phe
XM_011544497.1:c.5227G>T	XP_011542799.1:p.Val1743Phe
XM_011544498.1:c.5209G>T	XP_011542800.1:p.Val1737Phe
XM_011544499.1:c.5392G>T	XP_011542801.1:p.Val1798Phe
XM_011544500.1:c.5227G>T	XP_011542802.1:p.Val1743Phe
XM_011544501.1:c.5227G>T	XP_011542803.1:p.Val1743Phe
XM_011544502.1:c.5227G>T	XP_011542804.1:p.Val1743Phe
XM_011544503.1:c.4861G>T	XP_011542805.1:p.Val1621Phe
XM_011544504.1:c.4741G>T	XP_011542806.1:p.Val1581Phe
XM_011544505.1:c.4741G>T	XP_011542807.1:p.Val1581Phe
XM_011544506.1:c.4952G>T	XP_011542808.1:p.Cys1651Phe
XR_949389.1:n.4983G>T
XM_005273476.4:c.5251G>T	XP_005273533.1:p.Val1751Phe
XM_011544490.3:c.5392G>T	XP_011542792.1:p.Val1798Phe
XM_011544491.3:c.5392G>T	XP_011542793.1:p.Val1798Phe
XM_011544494.3:c.5347G>T	XP_011542796.1:p.Val1783Phe
XM_011544495.3:c.5347G>T	XP_011542797.1:p.Val1783Phe
XM_011544496.3:c.5392G>T	XP_011542798.1:p.Val1798Phe
XM_011544500.2:c.5227G>T	XP_011542802.1:p.Val1743Phe
XM_011544501.2:c.5227G>T	XP_011542803.1:p.Val1743Phe
XM_011544502.2:c.5227G>T	XP_011542804.1:p.Val1743Phe
XM_011544503.3:c.4861G>T	XP_011542805.1:p.Val1621Phe
XM_011544504.2:c.4741G>T	XP_011542806.1:p.Val1581Phe
XM_011544505.2:c.4741G>T	XP_011542807.1:p.Val1581Phe
XM_017013319.2:c.5368G>T	XP_016868808.1:p.Val1790Phe
XM_017013320.2:c.5392G>T	XP_016868809.1:p.Val1798Phe
XM_017013321.1:c.5305G>T	XP_016868810.1:p.Val1769Phe
XM_017013322.1:c.5296G>T	XP_016868811.1:p.Val1766Phe
XM_017013323.1:c.5293G>T	XP_016868812.1:p.Val1765Phe
XM_017013324.1:c.5251G>T	XP_016868813.1:p.Val1751Phe
XM_017013325.1:c.5209G>T	XP_016868814.1:p.Val1737Phe
XM_017013326.1:c.5164G>T	XP_016868815.1:p.Val1722Phe
XM_017013327.2:c.4906G>T	XP_016868816.1:p.Val1636Phe
XM_017013328.2:c.4861G>T	XP_016868817.1:p.Val1621Phe
XM_017013329.1:c.4765G>T	XP_016868818.1:p.Val1589Phe
XM_024447128.1:c.5197G>T	XP_024302896.1:p.Val1733Phe
NM_000037.4:c.5128G>T MANE Select	NP_000028.3:p.Val1710Phe
NM_001142446.2:c.5251G>T	NP_001135918.1:p.Val1751Phe
NM_020475.3:c.5128G>T	NP_065208.2:p.Val1710Phe
NM_020476.3:c.5128G>T	NP_065209.2:p.Val1710Phe
NM_020477.3:c.4642G>T	NP_065210.2:p.Val1548Phe