Canonical Allele Identifier: CA371051467

Gene: ANK1

Linked Data

• gnomAD v4: 8-41668413-A-C
• MyVariant Identifiers: chr8:g.41525931A>C (hg19) ; chr8:g.41668413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668413A>C , CM000670.2:g.41668413A>C	GRCh38
NC_000008.10:g.41525931A>C , CM000670.1:g.41525931A>C	GRCh37
NC_000008.9:g.41645088A>C	NCBI36
NG_012820.1:g.233350T>G
NG_012820.2:g.233350T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5371T>G	ENSP00000265709.8:p.Tyr1791Asp
ENST00000705521.1:c.5467T>G	ENSP00000516136.1:p.Tyr1823Asp
ENST00000705522.1:c.5284T>G	ENSP00000516137.1:p.Tyr1762Asp
ENST00000265709.13:c.5371T>G	ENSP00000265709.8:p.Tyr1791Asp
ENST00000289734.13:c.5248T>G MANE Select	ENSP00000289734.8:p.Tyr1750Asp
ENST00000645531.1:c.1262T>G
ENST00000265709.12:c.5371T>G	ENSP00000265709.8:p.Tyr1791Asp
ENST00000289734.11:c.5248T>G	ENSP00000289734.7:p.Tyr1750Asp
ENST00000347528.8:c.5248T>G	ENSP00000339620.4:p.Tyr1750Asp
ENST00000518061.1:c.820T>G
ENST00000520299.5:c.2726T>G
ENST00000524227.5:n.2642T>G
NM_000037.3:c.5248T>G	NP_000028.3:p.Tyr1750Asp
NM_001142446.1:c.5371T>G	NP_001135918.1:p.Tyr1791Asp
NM_020475.2:c.5248T>G	NP_065208.2:p.Tyr1750Asp
NM_020476.2:c.5248T>G	NP_065209.2:p.Tyr1750Asp
NM_020477.2:c.4762T>G	NP_065210.2:p.Tyr1588Asp
XM_005273476.3:c.5371T>G	XP_005273533.1:p.Tyr1791Asp
XM_011544490.1:c.5512T>G	XP_011542792.1:p.Tyr1838Asp
XM_011544491.1:c.5512T>G	XP_011542793.1:p.Tyr1838Asp
XM_011544492.1:c.5413T>G	XP_011542794.1:p.Tyr1805Asp
XM_011544493.1:c.5512T>G	XP_011542795.1:p.Tyr1838Asp
XM_011544494.1:c.5467T>G	XP_011542796.1:p.Tyr1823Asp
XM_011544495.1:c.5467T>G	XP_011542797.1:p.Tyr1823Asp
XM_011544496.1:c.5512T>G	XP_011542798.1:p.Tyr1838Asp
XM_011544497.1:c.5347T>G	XP_011542799.1:p.Tyr1783Asp
XM_011544498.1:c.5329T>G	XP_011542800.1:p.Tyr1777Asp
XM_011544499.1:c.5512T>G	XP_011542801.1:p.Tyr1838Asp
XM_011544500.1:c.5347T>G	XP_011542802.1:p.Tyr1783Asp
XM_011544501.1:c.5347T>G	XP_011542803.1:p.Tyr1783Asp
XM_011544502.1:c.5347T>G	XP_011542804.1:p.Tyr1783Asp
XM_011544503.1:c.4981T>G	XP_011542805.1:p.Tyr1661Asp
XM_011544504.1:c.4861T>G	XP_011542806.1:p.Tyr1621Asp
XM_011544505.1:c.4861T>G	XP_011542807.1:p.Tyr1621Asp
XM_011544506.1:c.*29T>G	XP_011542808.1:n.*29T>G
XR_949389.1:n.5103T>G
XM_005273476.4:c.5371T>G	XP_005273533.1:p.Tyr1791Asp
XM_011544490.3:c.5512T>G	XP_011542792.1:p.Tyr1838Asp
XM_011544491.3:c.5512T>G	XP_011542793.1:p.Tyr1838Asp
XM_011544494.3:c.5467T>G	XP_011542796.1:p.Tyr1823Asp
XM_011544495.3:c.5467T>G	XP_011542797.1:p.Tyr1823Asp
XM_011544496.3:c.5512T>G	XP_011542798.1:p.Tyr1838Asp
XM_011544500.2:c.5347T>G	XP_011542802.1:p.Tyr1783Asp
XM_011544501.2:c.5347T>G	XP_011542803.1:p.Tyr1783Asp
XM_011544502.2:c.5347T>G	XP_011542804.1:p.Tyr1783Asp
XM_011544503.3:c.4981T>G	XP_011542805.1:p.Tyr1661Asp
XM_011544504.2:c.4861T>G	XP_011542806.1:p.Tyr1621Asp
XM_011544505.2:c.4861T>G	XP_011542807.1:p.Tyr1621Asp
XM_017013319.2:c.5488T>G	XP_016868808.1:p.Tyr1830Asp
XM_017013320.2:c.5512T>G	XP_016868809.1:p.Tyr1838Asp
XM_017013321.1:c.5425T>G	XP_016868810.1:p.Tyr1809Asp
XM_017013322.1:c.5416T>G	XP_016868811.1:p.Tyr1806Asp
XM_017013323.1:c.5413T>G	XP_016868812.1:p.Tyr1805Asp
XM_017013324.1:c.5371T>G	XP_016868813.1:p.Tyr1791Asp
XM_017013325.1:c.5329T>G	XP_016868814.1:p.Tyr1777Asp
XM_017013326.1:c.5284T>G	XP_016868815.1:p.Tyr1762Asp
XM_017013327.2:c.5026T>G	XP_016868816.1:p.Tyr1676Asp
XM_017013328.2:c.4981T>G	XP_016868817.1:p.Tyr1661Asp
XM_017013329.1:c.4885T>G	XP_016868818.1:p.Tyr1629Asp
XM_024447128.1:c.5317T>G	XP_024302896.1:p.Tyr1773Asp
NM_000037.4:c.5248T>G MANE Select	NP_000028.3:p.Tyr1750Asp
NM_001142446.2:c.5371T>G	NP_001135918.1:p.Tyr1791Asp
NM_020475.3:c.5248T>G	NP_065208.2:p.Tyr1750Asp
NM_020476.3:c.5248T>G	NP_065209.2:p.Tyr1750Asp
NM_020477.3:c.4762T>G	NP_065210.2:p.Tyr1588Asp