Canonical Allele Identifier: CA371053195

Gene: ANK1

Linked Data

• ClinVar Variation Id: 544803
• ClinVar RCV Id: RCV000655900
• dbSNP Id: rs1554627073
• MyVariant Identifiers: chr8:g.41655056T>C (hg19) ; chr8:g.41797538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41797538T>C , CM000670.2:g.41797538T>C	GRCh38
NC_000008.10:g.41655056T>C , CM000670.1:g.41655056T>C	GRCh37
NC_000008.9:g.41774213T>C	NCBI36
NG_012820.1:g.104225A>G
NG_012820.2:g.104225A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.127-39401A>G	ENSP00000265709.8:n.127-39401A>G
ENST00000705521.1:c.127-39401A>G	ENSP00000516136.1:n.127-39401A>G
ENST00000265709.13:c.127-39401A>G	ENSP00000265709.8:n.127-39401A>G
ENST00000289734.13:c.1A>G MANE Select	ENSP00000289734.8:p.Met1Val
ENST00000265709.12:c.127-39401A>G	ENSP00000265709.8:n.127-39401A>G
ENST00000289734.11:c.1A>G	ENSP00000289734.7:p.Met1Val
ENST00000347528.8:c.1A>G	ENSP00000339620.4:p.Met1Val
ENST00000521407.1:n.56A>G
NM_000037.3:c.1A>G	NP_000028.3:p.Met1Val
NM_001142446.1:c.127-39401A>G	NP_001135918.1:n.127-39401A>G
NM_020475.2:c.1A>G	NP_065208.2:p.Met1Val
NM_020476.2:c.1A>G	NP_065209.2:p.Met1Val
NM_020477.2:c.1A>G	NP_065210.2:p.Met1Val
XM_005273476.3:c.127-39401A>G	XP_005273533.1:n.127-39401A>G
XM_011544490.1:c.127-39401A>G	XP_011542792.1:n.127-39401A>G
XM_011544491.1:c.127-39401A>G	XP_011542793.1:n.127-39401A>G
XM_011544492.1:c.1A>G	XP_011542794.1:p.Met1Val
XM_011544493.1:c.127-39401A>G	XP_011542795.1:n.127-39401A>G
XM_011544494.1:c.127-39401A>G	XP_011542796.1:n.127-39401A>G
XM_011544495.1:c.127-39401A>G	XP_011542797.1:n.127-39401A>G
XM_011544496.1:c.127-39401A>G	XP_011542798.1:n.127-39401A>G
XM_011544497.1:c.127-39401A>G	XP_011542799.1:n.127-39401A>G
XM_011544499.1:c.127-39401A>G	XP_011542801.1:n.127-39401A>G
XM_011544500.1:c.127-39401A>G	XP_011542802.1:n.127-39401A>G
XM_011544501.1:c.127-39401A>G	XP_011542803.1:n.127-39401A>G
XM_011544502.1:c.127-39401A>G	XP_011542804.1:n.127-39401A>G
XM_011544503.1:c.127-39401A>G	XP_011542805.1:n.127-39401A>G
XM_011544504.1:c.127-39401A>G	XP_011542806.1:n.127-39401A>G
XM_011544505.1:c.127-39401A>G	XP_011542807.1:n.127-39401A>G
XM_011544506.1:c.127-39401A>G	XP_011542808.1:n.127-39401A>G
XR_949389.1:n.146-39401A>G
XM_005273476.4:c.127-39401A>G	XP_005273533.1:n.127-39401A>G
XM_011544490.3:c.127-39401A>G	XP_011542792.1:n.127-39401A>G
XM_011544491.3:c.127-39401A>G	XP_011542793.1:n.127-39401A>G
XM_011544494.3:c.127-39401A>G	XP_011542796.1:n.127-39401A>G
XM_011544495.3:c.127-39401A>G	XP_011542797.1:n.127-39401A>G
XM_011544496.3:c.127-39401A>G	XP_011542798.1:n.127-39401A>G
XM_011544500.2:c.127-39401A>G	XP_011542802.1:n.127-39401A>G
XM_011544501.2:c.127-39401A>G	XP_011542803.1:n.127-39401A>G
XM_011544502.2:c.127-39401A>G	XP_011542804.1:n.127-39401A>G
XM_011544503.3:c.127-39401A>G	XP_011542805.1:n.127-39401A>G
XM_011544504.2:c.127-39401A>G	XP_011542806.1:n.127-39401A>G
XM_011544505.2:c.127-39401A>G	XP_011542807.1:n.127-39401A>G
XM_017013319.2:c.127-39401A>G	XP_016868808.1:n.127-39401A>G
XM_017013320.2:c.127-39401A>G	XP_016868809.1:n.127-39401A>G
XM_017013322.1:c.127-39401A>G	XP_016868811.1:n.127-39401A>G
XM_017013323.1:c.1A>G	XP_016868812.1:p.Met1Val
XM_017013324.1:c.127-39401A>G	XP_016868813.1:n.127-39401A>G
XM_017013327.2:c.127-39401A>G	XP_016868816.1:n.127-39401A>G
XM_017013328.2:c.127-39401A>G	XP_016868817.1:n.127-39401A>G
XM_017013329.1:c.127-39401A>G	XP_016868818.1:n.127-39401A>G
XM_024447128.1:c.1A>G	XP_024302896.1:p.Met1Val
NM_000037.4:c.1A>G MANE Select	NP_000028.3:p.Met1Val
NM_001142446.2:c.127-39401A>G	NP_001135918.1:n.127-39401A>G
NM_020475.3:c.1A>G	NP_065208.2:p.Met1Val
NM_020476.3:c.1A>G	NP_065209.2:p.Met1Val
NM_020477.3:c.1A>G	NP_065210.2:p.Met1Val