Canonical Allele Identifier: CA175914316

Gene: ANK1

Linked Data

• dbSNP Id: rs142163190
• gnomAD v2: 8-41525928-C-G
• gnomAD v3: 8-41668410-C-G
• gnomAD v4: 8-41668410-C-G
• MyVariant Identifiers: chr8:g.41525928C>G (hg19) ; chr8:g.41668410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668410C>G , CM000670.2:g.41668410C>G	GRCh38
NC_000008.10:g.41525928C>G , CM000670.1:g.41525928C>G	GRCh37
NC_000008.9:g.41645085C>G	NCBI36
NG_012820.1:g.233353G>C
NG_012820.2:g.233353G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265709.14:c.5374G>C	ENSP00000265709.8:p.Glu1792Gln
ENST00000705521.1:c.5470G>C	ENSP00000516136.1:p.Glu1824Gln
ENST00000705522.1:c.5287G>C	ENSP00000516137.1:p.Glu1763Gln
ENST00000265709.13:c.5374G>C	ENSP00000265709.8:p.Glu1792Gln
ENST00000289734.13:c.5251G>C MANE Select	ENSP00000289734.8:p.Glu1751Gln
ENST00000645531.1:c.1265G>C
ENST00000265709.12:c.5374G>C	ENSP00000265709.8:p.Glu1792Gln
ENST00000289734.11:c.5251G>C	ENSP00000289734.7:p.Glu1751Gln
ENST00000347528.8:c.5251G>C	ENSP00000339620.4:p.Glu1751Gln
ENST00000518061.1:c.823G>C
ENST00000520299.5:c.2729G>C
ENST00000524227.5:n.2645G>C
NM_000037.3:c.5251G>C	NP_000028.3:p.Glu1751Gln
NM_001142446.1:c.5374G>C	NP_001135918.1:p.Glu1792Gln
NM_020475.2:c.5251G>C	NP_065208.2:p.Glu1751Gln
NM_020476.2:c.5251G>C	NP_065209.2:p.Glu1751Gln
NM_020477.2:c.4765G>C	NP_065210.2:p.Glu1589Gln
XM_005273476.3:c.5374G>C	XP_005273533.1:p.Glu1792Gln
XM_011544490.1:c.5515G>C	XP_011542792.1:p.Glu1839Gln
XM_011544491.1:c.5515G>C	XP_011542793.1:p.Glu1839Gln
XM_011544492.1:c.5416G>C	XP_011542794.1:p.Glu1806Gln
XM_011544493.1:c.5515G>C	XP_011542795.1:p.Glu1839Gln
XM_011544494.1:c.5470G>C	XP_011542796.1:p.Glu1824Gln
XM_011544495.1:c.5470G>C	XP_011542797.1:p.Glu1824Gln
XM_011544496.1:c.5515G>C	XP_011542798.1:p.Glu1839Gln
XM_011544497.1:c.5350G>C	XP_011542799.1:p.Glu1784Gln
XM_011544498.1:c.5332G>C	XP_011542800.1:p.Glu1778Gln
XM_011544499.1:c.5515G>C	XP_011542801.1:p.Glu1839Gln
XM_011544500.1:c.5350G>C	XP_011542802.1:p.Glu1784Gln
XM_011544501.1:c.5350G>C	XP_011542803.1:p.Glu1784Gln
XM_011544502.1:c.5350G>C	XP_011542804.1:p.Glu1784Gln
XM_011544503.1:c.4984G>C	XP_011542805.1:p.Glu1662Gln
XM_011544504.1:c.4864G>C	XP_011542806.1:p.Glu1622Gln
XM_011544505.1:c.4864G>C	XP_011542807.1:p.Glu1622Gln
XM_011544506.1:c.*32G>C	XP_011542808.1:n.*32G>C
XR_949389.1:n.5106G>C
XM_005273476.4:c.5374G>C	XP_005273533.1:p.Glu1792Gln
XM_011544490.3:c.5515G>C	XP_011542792.1:p.Glu1839Gln
XM_011544491.3:c.5515G>C	XP_011542793.1:p.Glu1839Gln
XM_011544494.3:c.5470G>C	XP_011542796.1:p.Glu1824Gln
XM_011544495.3:c.5470G>C	XP_011542797.1:p.Glu1824Gln
XM_011544496.3:c.5515G>C	XP_011542798.1:p.Glu1839Gln
XM_011544500.2:c.5350G>C	XP_011542802.1:p.Glu1784Gln
XM_011544501.2:c.5350G>C	XP_011542803.1:p.Glu1784Gln
XM_011544502.2:c.5350G>C	XP_011542804.1:p.Glu1784Gln
XM_011544503.3:c.4984G>C	XP_011542805.1:p.Glu1662Gln
XM_011544504.2:c.4864G>C	XP_011542806.1:p.Glu1622Gln
XM_011544505.2:c.4864G>C	XP_011542807.1:p.Glu1622Gln
XM_017013319.2:c.5491G>C	XP_016868808.1:p.Glu1831Gln
XM_017013320.2:c.5515G>C	XP_016868809.1:p.Glu1839Gln
XM_017013321.1:c.5428G>C	XP_016868810.1:p.Glu1810Gln
XM_017013322.1:c.5419G>C	XP_016868811.1:p.Glu1807Gln
XM_017013323.1:c.5416G>C	XP_016868812.1:p.Glu1806Gln
XM_017013324.1:c.5374G>C	XP_016868813.1:p.Glu1792Gln
XM_017013325.1:c.5332G>C	XP_016868814.1:p.Glu1778Gln
XM_017013326.1:c.5287G>C	XP_016868815.1:p.Glu1763Gln
XM_017013327.2:c.5029G>C	XP_016868816.1:p.Glu1677Gln
XM_017013328.2:c.4984G>C	XP_016868817.1:p.Glu1662Gln
XM_017013329.1:c.4888G>C	XP_016868818.1:p.Glu1630Gln
XM_024447128.1:c.5320G>C	XP_024302896.1:p.Glu1774Gln
NM_000037.4:c.5251G>C MANE Select	NP_000028.3:p.Glu1751Gln
NM_001142446.2:c.5374G>C	NP_001135918.1:p.Glu1792Gln
NM_020475.3:c.5251G>C	NP_065208.2:p.Glu1751Gln
NM_020476.3:c.5251G>C	NP_065209.2:p.Glu1751Gln
NM_020477.3:c.4765G>C	NP_065210.2:p.Glu1589Gln