Canonical Allele Identifier: CA371052069

Gene: ANK1

Linked Data

• ClinVar Variation Id: 2770622
• ClinVar RCV Id: RCV003580763
• MyVariant Identifiers: chr8:g.41526044T>A (hg19) ; chr8:g.41668526T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668526T>A , CM000670.2:g.41668526T>A	GRCh38
NC_000008.10:g.41526044T>A , CM000670.1:g.41526044T>A	GRCh37
NC_000008.9:g.41645201T>A	NCBI36
NG_012820.1:g.233237A>T
NG_012820.2:g.233237A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5258A>T	ENSP00000265709.8:p.Tyr1753Phe
ENST00000705521.1:c.5354A>T	ENSP00000516136.1:p.Tyr1785Phe
ENST00000705522.1:c.5171A>T	ENSP00000516137.1:p.Tyr1724Phe
ENST00000265709.13:c.5258A>T	ENSP00000265709.8:p.Tyr1753Phe
ENST00000289734.13:c.5135A>T MANE Select	ENSP00000289734.8:p.Tyr1712Phe
ENST00000645531.1:c.1149A>T
ENST00000265709.12:c.5258A>T	ENSP00000265709.8:p.Tyr1753Phe
ENST00000289734.11:c.5135A>T	ENSP00000289734.7:p.Tyr1712Phe
ENST00000347528.8:c.5135A>T	ENSP00000339620.4:p.Tyr1712Phe
ENST00000518061.1:c.707A>T
ENST00000520299.5:c.2613A>T
ENST00000524227.5:n.2529A>T
NM_000037.3:c.5135A>T	NP_000028.3:p.Tyr1712Phe
NM_001142446.1:c.5258A>T	NP_001135918.1:p.Tyr1753Phe
NM_020475.2:c.5135A>T	NP_065208.2:p.Tyr1712Phe
NM_020476.2:c.5135A>T	NP_065209.2:p.Tyr1712Phe
NM_020477.2:c.4649A>T	NP_065210.2:p.Tyr1550Phe
XM_005273476.3:c.5258A>T	XP_005273533.1:p.Tyr1753Phe
XM_011544490.1:c.5399A>T	XP_011542792.1:p.Tyr1800Phe
XM_011544491.1:c.5399A>T	XP_011542793.1:p.Tyr1800Phe
XM_011544492.1:c.5300A>T	XP_011542794.1:p.Tyr1767Phe
XM_011544493.1:c.5399A>T	XP_011542795.1:p.Tyr1800Phe
XM_011544494.1:c.5354A>T	XP_011542796.1:p.Tyr1785Phe
XM_011544495.1:c.5354A>T	XP_011542797.1:p.Tyr1785Phe
XM_011544496.1:c.5399A>T	XP_011542798.1:p.Tyr1800Phe
XM_011544497.1:c.5234A>T	XP_011542799.1:p.Tyr1745Phe
XM_011544498.1:c.5216A>T	XP_011542800.1:p.Tyr1739Phe
XM_011544499.1:c.5399A>T	XP_011542801.1:p.Tyr1800Phe
XM_011544500.1:c.5234A>T	XP_011542802.1:p.Tyr1745Phe
XM_011544501.1:c.5234A>T	XP_011542803.1:p.Tyr1745Phe
XM_011544502.1:c.5234A>T	XP_011542804.1:p.Tyr1745Phe
XM_011544503.1:c.4868A>T	XP_011542805.1:p.Tyr1623Phe
XM_011544504.1:c.4748A>T	XP_011542806.1:p.Tyr1583Phe
XM_011544505.1:c.4748A>T	XP_011542807.1:p.Tyr1583Phe
XM_011544506.1:c.4959A>T	XP_011542808.1:p.Ile1653=
XR_949389.1:n.4990A>T
XM_005273476.4:c.5258A>T	XP_005273533.1:p.Tyr1753Phe
XM_011544490.3:c.5399A>T	XP_011542792.1:p.Tyr1800Phe
XM_011544491.3:c.5399A>T	XP_011542793.1:p.Tyr1800Phe
XM_011544494.3:c.5354A>T	XP_011542796.1:p.Tyr1785Phe
XM_011544495.3:c.5354A>T	XP_011542797.1:p.Tyr1785Phe
XM_011544496.3:c.5399A>T	XP_011542798.1:p.Tyr1800Phe
XM_011544500.2:c.5234A>T	XP_011542802.1:p.Tyr1745Phe
XM_011544501.2:c.5234A>T	XP_011542803.1:p.Tyr1745Phe
XM_011544502.2:c.5234A>T	XP_011542804.1:p.Tyr1745Phe
XM_011544503.3:c.4868A>T	XP_011542805.1:p.Tyr1623Phe
XM_011544504.2:c.4748A>T	XP_011542806.1:p.Tyr1583Phe
XM_011544505.2:c.4748A>T	XP_011542807.1:p.Tyr1583Phe
XM_017013319.2:c.5375A>T	XP_016868808.1:p.Tyr1792Phe
XM_017013320.2:c.5399A>T	XP_016868809.1:p.Tyr1800Phe
XM_017013321.1:c.5312A>T	XP_016868810.1:p.Tyr1771Phe
XM_017013322.1:c.5303A>T	XP_016868811.1:p.Tyr1768Phe
XM_017013323.1:c.5300A>T	XP_016868812.1:p.Tyr1767Phe
XM_017013324.1:c.5258A>T	XP_016868813.1:p.Tyr1753Phe
XM_017013325.1:c.5216A>T	XP_016868814.1:p.Tyr1739Phe
XM_017013326.1:c.5171A>T	XP_016868815.1:p.Tyr1724Phe
XM_017013327.2:c.4913A>T	XP_016868816.1:p.Tyr1638Phe
XM_017013328.2:c.4868A>T	XP_016868817.1:p.Tyr1623Phe
XM_017013329.1:c.4772A>T	XP_016868818.1:p.Tyr1591Phe
XM_024447128.1:c.5204A>T	XP_024302896.1:p.Tyr1735Phe
NM_000037.4:c.5135A>T MANE Select	NP_000028.3:p.Tyr1712Phe
NM_001142446.2:c.5258A>T	NP_001135918.1:p.Tyr1753Phe
NM_020475.3:c.5135A>T	NP_065208.2:p.Tyr1712Phe
NM_020476.3:c.5135A>T	NP_065209.2:p.Tyr1712Phe
NM_020477.3:c.4649A>T	NP_065210.2:p.Tyr1550Phe