Canonical Allele Identifier: CA371052276

Gene: ANK1

Linked Data

• dbSNP Id: rs1469893280
• gnomAD v2: 8-41526080-A-G
• gnomAD v4: 8-41668562-A-G
• MyVariant Identifiers: chr8:g.41526080A>G (hg19) ; chr8:g.41668562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668562A>G , CM000670.2:g.41668562A>G	GRCh38
NC_000008.10:g.41526080A>G , CM000670.1:g.41526080A>G	GRCh37
NC_000008.9:g.41645237A>G	NCBI36
NG_012820.1:g.233201T>C
NG_012820.2:g.233201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5222T>C	ENSP00000265709.8:p.Leu1741Pro
ENST00000705521.1:c.5318T>C	ENSP00000516136.1:p.Leu1773Pro
ENST00000705522.1:c.5135T>C	ENSP00000516137.1:p.Leu1712Pro
ENST00000265709.13:c.5222T>C	ENSP00000265709.8:p.Leu1741Pro
ENST00000289734.13:c.5099T>C MANE Select	ENSP00000289734.8:p.Leu1700Pro
ENST00000645531.1:c.1113T>C
ENST00000265709.12:c.5222T>C	ENSP00000265709.8:p.Leu1741Pro
ENST00000289734.11:c.5099T>C	ENSP00000289734.7:p.Leu1700Pro
ENST00000347528.8:c.5099T>C	ENSP00000339620.4:p.Leu1700Pro
ENST00000518061.1:c.671T>C
ENST00000520299.5:c.2577T>C
ENST00000524227.5:n.2493T>C
NM_000037.3:c.5099T>C	NP_000028.3:p.Leu1700Pro
NM_001142446.1:c.5222T>C	NP_001135918.1:p.Leu1741Pro
NM_020475.2:c.5099T>C	NP_065208.2:p.Leu1700Pro
NM_020476.2:c.5099T>C	NP_065209.2:p.Leu1700Pro
NM_020477.2:c.4613T>C	NP_065210.2:p.Leu1538Pro
XM_005273476.3:c.5222T>C	XP_005273533.1:p.Leu1741Pro
XM_011544490.1:c.5363T>C	XP_011542792.1:p.Leu1788Pro
XM_011544491.1:c.5363T>C	XP_011542793.1:p.Leu1788Pro
XM_011544492.1:c.5264T>C	XP_011542794.1:p.Leu1755Pro
XM_011544493.1:c.5363T>C	XP_011542795.1:p.Leu1788Pro
XM_011544494.1:c.5318T>C	XP_011542796.1:p.Leu1773Pro
XM_011544495.1:c.5318T>C	XP_011542797.1:p.Leu1773Pro
XM_011544496.1:c.5363T>C	XP_011542798.1:p.Leu1788Pro
XM_011544497.1:c.5198T>C	XP_011542799.1:p.Leu1733Pro
XM_011544498.1:c.5180T>C	XP_011542800.1:p.Leu1727Pro
XM_011544499.1:c.5363T>C	XP_011542801.1:p.Leu1788Pro
XM_011544500.1:c.5198T>C	XP_011542802.1:p.Leu1733Pro
XM_011544501.1:c.5198T>C	XP_011542803.1:p.Leu1733Pro
XM_011544502.1:c.5198T>C	XP_011542804.1:p.Leu1733Pro
XM_011544503.1:c.4832T>C	XP_011542805.1:p.Leu1611Pro
XM_011544504.1:c.4712T>C	XP_011542806.1:p.Leu1571Pro
XM_011544505.1:c.4712T>C	XP_011542807.1:p.Leu1571Pro
XM_011544506.1:c.4923T>C	XP_011542808.1:p.Thr1641=
XR_949389.1:n.4954T>C
XM_005273476.4:c.5222T>C	XP_005273533.1:p.Leu1741Pro
XM_011544490.3:c.5363T>C	XP_011542792.1:p.Leu1788Pro
XM_011544491.3:c.5363T>C	XP_011542793.1:p.Leu1788Pro
XM_011544494.3:c.5318T>C	XP_011542796.1:p.Leu1773Pro
XM_011544495.3:c.5318T>C	XP_011542797.1:p.Leu1773Pro
XM_011544496.3:c.5363T>C	XP_011542798.1:p.Leu1788Pro
XM_011544500.2:c.5198T>C	XP_011542802.1:p.Leu1733Pro
XM_011544501.2:c.5198T>C	XP_011542803.1:p.Leu1733Pro
XM_011544502.2:c.5198T>C	XP_011542804.1:p.Leu1733Pro
XM_011544503.3:c.4832T>C	XP_011542805.1:p.Leu1611Pro
XM_011544504.2:c.4712T>C	XP_011542806.1:p.Leu1571Pro
XM_011544505.2:c.4712T>C	XP_011542807.1:p.Leu1571Pro
XM_017013319.2:c.5339T>C	XP_016868808.1:p.Leu1780Pro
XM_017013320.2:c.5363T>C	XP_016868809.1:p.Leu1788Pro
XM_017013321.1:c.5276T>C	XP_016868810.1:p.Leu1759Pro
XM_017013322.1:c.5267T>C	XP_016868811.1:p.Leu1756Pro
XM_017013323.1:c.5264T>C	XP_016868812.1:p.Leu1755Pro
XM_017013324.1:c.5222T>C	XP_016868813.1:p.Leu1741Pro
XM_017013325.1:c.5180T>C	XP_016868814.1:p.Leu1727Pro
XM_017013326.1:c.5135T>C	XP_016868815.1:p.Leu1712Pro
XM_017013327.2:c.4877T>C	XP_016868816.1:p.Leu1626Pro
XM_017013328.2:c.4832T>C	XP_016868817.1:p.Leu1611Pro
XM_017013329.1:c.4736T>C	XP_016868818.1:p.Leu1579Pro
XM_024447128.1:c.5168T>C	XP_024302896.1:p.Leu1723Pro
NM_000037.4:c.5099T>C MANE Select	NP_000028.3:p.Leu1700Pro
NM_001142446.2:c.5222T>C	NP_001135918.1:p.Leu1741Pro
NM_020475.3:c.5099T>C	NP_065208.2:p.Leu1700Pro
NM_020476.3:c.5099T>C	NP_065209.2:p.Leu1700Pro
NM_020477.3:c.4613T>C	NP_065210.2:p.Leu1538Pro