Canonical Allele Identifier: CA371051408

Gene: ANK1

Linked Data

• gnomAD v4: 8-41668400-A-G
• MyVariant Identifiers: chr8:g.41525918A>G (hg19) ; chr8:g.41668400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668400A>G , CM000670.2:g.41668400A>G	GRCh38
NC_000008.10:g.41525918A>G , CM000670.1:g.41525918A>G	GRCh37
NC_000008.9:g.41645075A>G	NCBI36
NG_012820.1:g.233363T>C
NG_012820.2:g.233363T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265709.14:c.5384T>C	ENSP00000265709.8:p.Leu1795Pro
ENST00000705521.1:c.5480T>C	ENSP00000516136.1:p.Leu1827Pro
ENST00000705522.1:c.5297T>C	ENSP00000516137.1:p.Leu1766Pro
ENST00000265709.13:c.5384T>C	ENSP00000265709.8:p.Leu1795Pro
ENST00000289734.13:c.5261T>C MANE Select	ENSP00000289734.8:p.Leu1754Pro
ENST00000645531.1:c.1275T>C
ENST00000265709.12:c.5384T>C	ENSP00000265709.8:p.Leu1795Pro
ENST00000289734.11:c.5261T>C	ENSP00000289734.7:p.Leu1754Pro
ENST00000347528.8:c.5261T>C	ENSP00000339620.4:p.Leu1754Pro
ENST00000518061.1:c.833T>C
ENST00000520299.5:c.2739T>C
ENST00000524227.5:n.2655T>C
NM_000037.3:c.5261T>C	NP_000028.3:p.Leu1754Pro
NM_001142446.1:c.5384T>C	NP_001135918.1:p.Leu1795Pro
NM_020475.2:c.5261T>C	NP_065208.2:p.Leu1754Pro
NM_020476.2:c.5261T>C	NP_065209.2:p.Leu1754Pro
NM_020477.2:c.4775T>C	NP_065210.2:p.Leu1592Pro
XM_005273476.3:c.5384T>C	XP_005273533.1:p.Leu1795Pro
XM_011544490.1:c.5525T>C	XP_011542792.1:p.Leu1842Pro
XM_011544491.1:c.5525T>C	XP_011542793.1:p.Leu1842Pro
XM_011544492.1:c.5426T>C	XP_011542794.1:p.Leu1809Pro
XM_011544493.1:c.5525T>C	XP_011542795.1:p.Leu1842Pro
XM_011544494.1:c.5480T>C	XP_011542796.1:p.Leu1827Pro
XM_011544495.1:c.5480T>C	XP_011542797.1:p.Leu1827Pro
XM_011544496.1:c.5525T>C	XP_011542798.1:p.Leu1842Pro
XM_011544497.1:c.5360T>C	XP_011542799.1:p.Leu1787Pro
XM_011544498.1:c.5342T>C	XP_011542800.1:p.Leu1781Pro
XM_011544499.1:c.5525T>C	XP_011542801.1:p.Leu1842Pro
XM_011544500.1:c.5360T>C	XP_011542802.1:p.Leu1787Pro
XM_011544501.1:c.5360T>C	XP_011542803.1:p.Leu1787Pro
XM_011544502.1:c.5360T>C	XP_011542804.1:p.Leu1787Pro
XM_011544503.1:c.4994T>C	XP_011542805.1:p.Leu1665Pro
XM_011544504.1:c.4874T>C	XP_011542806.1:p.Leu1625Pro
XM_011544505.1:c.4874T>C	XP_011542807.1:p.Leu1625Pro
XM_011544506.1:c.*42T>C	XP_011542808.1:n.*42T>C
XR_949389.1:n.5116T>C
XM_005273476.4:c.5384T>C	XP_005273533.1:p.Leu1795Pro
XM_011544490.3:c.5525T>C	XP_011542792.1:p.Leu1842Pro
XM_011544491.3:c.5525T>C	XP_011542793.1:p.Leu1842Pro
XM_011544494.3:c.5480T>C	XP_011542796.1:p.Leu1827Pro
XM_011544495.3:c.5480T>C	XP_011542797.1:p.Leu1827Pro
XM_011544496.3:c.5525T>C	XP_011542798.1:p.Leu1842Pro
XM_011544500.2:c.5360T>C	XP_011542802.1:p.Leu1787Pro
XM_011544501.2:c.5360T>C	XP_011542803.1:p.Leu1787Pro
XM_011544502.2:c.5360T>C	XP_011542804.1:p.Leu1787Pro
XM_011544503.3:c.4994T>C	XP_011542805.1:p.Leu1665Pro
XM_011544504.2:c.4874T>C	XP_011542806.1:p.Leu1625Pro
XM_011544505.2:c.4874T>C	XP_011542807.1:p.Leu1625Pro
XM_017013319.2:c.5501T>C	XP_016868808.1:p.Leu1834Pro
XM_017013320.2:c.5525T>C	XP_016868809.1:p.Leu1842Pro
XM_017013321.1:c.5438T>C	XP_016868810.1:p.Leu1813Pro
XM_017013322.1:c.5429T>C	XP_016868811.1:p.Leu1810Pro
XM_017013323.1:c.5426T>C	XP_016868812.1:p.Leu1809Pro
XM_017013324.1:c.5384T>C	XP_016868813.1:p.Leu1795Pro
XM_017013325.1:c.5342T>C	XP_016868814.1:p.Leu1781Pro
XM_017013326.1:c.5297T>C	XP_016868815.1:p.Leu1766Pro
XM_017013327.2:c.5039T>C	XP_016868816.1:p.Leu1680Pro
XM_017013328.2:c.4994T>C	XP_016868817.1:p.Leu1665Pro
XM_017013329.1:c.4898T>C	XP_016868818.1:p.Leu1633Pro
XM_024447128.1:c.5330T>C	XP_024302896.1:p.Leu1777Pro
NM_000037.4:c.5261T>C MANE Select	NP_000028.3:p.Leu1754Pro
NM_001142446.2:c.5384T>C	NP_001135918.1:p.Leu1795Pro
NM_020475.3:c.5261T>C	NP_065208.2:p.Leu1754Pro
NM_020476.3:c.5261T>C	NP_065209.2:p.Leu1754Pro
NM_020477.3:c.4775T>C	NP_065210.2:p.Leu1592Pro