Canonical Allele Identifier: CA4727355

Gene: ANK1

Linked Data

• ClinVar Variation Id: 909743
• ClinVar RCV Id: RCV001161013 ; RCV001161012
• dbSNP Id: rs200662932
• ExAC: 8:41526002 G / A
• gnomAD v2: 8-41526002-G-A
• gnomAD v3: 8-41668484-G-A
• gnomAD v4: 8-41668484-G-A
• COSMIC: COSM1099855 ; COSM1154997
• MyVariant Identifiers: chr8:g.41526002G>A (hg19) ; chr8:g.41668484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668484G>A , CM000670.2:g.41668484G>A	GRCh38
NC_000008.10:g.41526002G>A , CM000670.1:g.41526002G>A	GRCh37
NC_000008.9:g.41645159G>A	NCBI36
NG_012820.1:g.233279C>T
NG_012820.2:g.233279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5300C>T	ENSP00000265709.8:p.Thr1767Met
ENST00000705521.1:c.5396C>T	ENSP00000516136.1:p.Thr1799Met
ENST00000705522.1:c.5213C>T	ENSP00000516137.1:p.Thr1738Met
ENST00000265709.13:c.5300C>T	ENSP00000265709.8:p.Thr1767Met
ENST00000289734.13:c.5177C>T MANE Select	ENSP00000289734.8:p.Thr1726Met
ENST00000645531.1:c.1191C>T
ENST00000265709.12:c.5300C>T	ENSP00000265709.8:p.Thr1767Met
ENST00000289734.11:c.5177C>T	ENSP00000289734.7:p.Thr1726Met
ENST00000347528.8:c.5177C>T	ENSP00000339620.4:p.Thr1726Met
ENST00000518061.1:c.749C>T
ENST00000520299.5:c.2655C>T
ENST00000524227.5:n.2571C>T
NM_000037.3:c.5177C>T	NP_000028.3:p.Thr1726Met
NM_001142446.1:c.5300C>T	NP_001135918.1:p.Thr1767Met
NM_020475.2:c.5177C>T	NP_065208.2:p.Thr1726Met
NM_020476.2:c.5177C>T	NP_065209.2:p.Thr1726Met
NM_020477.2:c.4691C>T	NP_065210.2:p.Thr1564Met
XM_005273476.3:c.5300C>T	XP_005273533.1:p.Thr1767Met
XM_011544490.1:c.5441C>T	XP_011542792.1:p.Thr1814Met
XM_011544491.1:c.5441C>T	XP_011542793.1:p.Thr1814Met
XM_011544492.1:c.5342C>T	XP_011542794.1:p.Thr1781Met
XM_011544493.1:c.5441C>T	XP_011542795.1:p.Thr1814Met
XM_011544494.1:c.5396C>T	XP_011542796.1:p.Thr1799Met
XM_011544495.1:c.5396C>T	XP_011542797.1:p.Thr1799Met
XM_011544496.1:c.5441C>T	XP_011542798.1:p.Thr1814Met
XM_011544497.1:c.5276C>T	XP_011542799.1:p.Thr1759Met
XM_011544498.1:c.5258C>T	XP_011542800.1:p.Thr1753Met
XM_011544499.1:c.5441C>T	XP_011542801.1:p.Thr1814Met
XM_011544500.1:c.5276C>T	XP_011542802.1:p.Thr1759Met
XM_011544501.1:c.5276C>T	XP_011542803.1:p.Thr1759Met
XM_011544502.1:c.5276C>T	XP_011542804.1:p.Thr1759Met
XM_011544503.1:c.4910C>T	XP_011542805.1:p.Thr1637Met
XM_011544504.1:c.4790C>T	XP_011542806.1:p.Thr1597Met
XM_011544505.1:c.4790C>T	XP_011542807.1:p.Thr1597Met
XM_011544506.1:c.5001C>T	XP_011542808.1:p.His1667=
XR_949389.1:n.5032C>T
XM_005273476.4:c.5300C>T	XP_005273533.1:p.Thr1767Met
XM_011544490.3:c.5441C>T	XP_011542792.1:p.Thr1814Met
XM_011544491.3:c.5441C>T	XP_011542793.1:p.Thr1814Met
XM_011544494.3:c.5396C>T	XP_011542796.1:p.Thr1799Met
XM_011544495.3:c.5396C>T	XP_011542797.1:p.Thr1799Met
XM_011544496.3:c.5441C>T	XP_011542798.1:p.Thr1814Met
XM_011544500.2:c.5276C>T	XP_011542802.1:p.Thr1759Met
XM_011544501.2:c.5276C>T	XP_011542803.1:p.Thr1759Met
XM_011544502.2:c.5276C>T	XP_011542804.1:p.Thr1759Met
XM_011544503.3:c.4910C>T	XP_011542805.1:p.Thr1637Met
XM_011544504.2:c.4790C>T	XP_011542806.1:p.Thr1597Met
XM_011544505.2:c.4790C>T	XP_011542807.1:p.Thr1597Met
XM_017013319.2:c.5417C>T	XP_016868808.1:p.Thr1806Met
XM_017013320.2:c.5441C>T	XP_016868809.1:p.Thr1814Met
XM_017013321.1:c.5354C>T	XP_016868810.1:p.Thr1785Met
XM_017013322.1:c.5345C>T	XP_016868811.1:p.Thr1782Met
XM_017013323.1:c.5342C>T	XP_016868812.1:p.Thr1781Met
XM_017013324.1:c.5300C>T	XP_016868813.1:p.Thr1767Met
XM_017013325.1:c.5258C>T	XP_016868814.1:p.Thr1753Met
XM_017013326.1:c.5213C>T	XP_016868815.1:p.Thr1738Met
XM_017013327.2:c.4955C>T	XP_016868816.1:p.Thr1652Met
XM_017013328.2:c.4910C>T	XP_016868817.1:p.Thr1637Met
XM_017013329.1:c.4814C>T	XP_016868818.1:p.Thr1605Met
XM_024447128.1:c.5246C>T	XP_024302896.1:p.Thr1749Met
NM_000037.4:c.5177C>T MANE Select	NP_000028.3:p.Thr1726Met
NM_001142446.2:c.5300C>T	NP_001135918.1:p.Thr1767Met
NM_020475.3:c.5177C>T	NP_065208.2:p.Thr1726Met
NM_020476.3:c.5177C>T	NP_065209.2:p.Thr1726Met
NM_020477.3:c.4691C>T	NP_065210.2:p.Thr1564Met