Canonical Allele Identifier: CA379924051

Gene: ANO5

Linked Data

• COSMIC: COSM1179707
• MyVariant Identifiers: chr11:g.22294528C>T (hg19) ; chr11:g.22272982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272982C>T , CM000673.2:g.22272982C>T	GRCh38
NC_000011.9:g.22294528C>T , CM000673.1:g.22294528C>T	GRCh37
NC_000011.8:g.22251104C>T	NCBI36
NG_015844.1:g.84807C>T , LRG_868:g.84807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.245C>T
ENST00000682266.1:c.1778C>T	ENSP00000507766.1:p.Ala593Val
ENST00000682341.1:c.2186C>T	ENSP00000508251.1:p.Ala729Val
ENST00000683197.1:c.2186C>T	ENSP00000507641.1:p.Ala729Val
ENST00000683411.1:c.1778C>T	ENSP00000508397.1:p.Ala593Val
ENST00000683437.1:c.1778C>T	ENSP00000508408.1:p.Ala593Val
ENST00000683613.1:n.3222C>T
ENST00000684663.1:c.2183C>T	ENSP00000508009.1:p.Ala728Val
ENST00000324559.9:c.2228C>T MANE Select	ENSP00000315371.9:p.Ala743Val
ENST00000648804.1:n.2563C>T
ENST00000324559.8:c.2228C>T	ENSP00000315371.8:p.Ala743Val
ENST00000532043.1:n.245C>T
NM_001142649.1:c.2225C>T	NP_001136121.1:p.Ala742Val
NM_213599.2:c.2228C>T , LRG_868t1:c.2228C>T	NP_998764.1:p.Ala743Val
XM_005252820.2:c.2186C>T	XP_005252877.2:p.Ala729Val
XM_005252821.2:c.2183C>T	XP_005252878.2:p.Ala728Val
XM_005252822.3:c.2150C>T	XP_005252879.1:p.Ala717Val
XM_005252823.3:c.2147C>T	XP_005252880.1:p.Ala716Val
XM_011519949.1:c.2135C>T	XP_011518251.1:p.Ala712Val
XM_005252820.3:c.2186C>T	XP_005252877.2:p.Ala729Val
XM_005252821.3:c.2183C>T	XP_005252878.2:p.Ala728Val
XM_005252822.4:c.2150C>T	XP_005252879.1:p.Ala717Val
XM_011519949.2:c.2135C>T	XP_011518251.1:p.Ala712Val
NM_001142649.2:c.2225C>T	NP_001136121.1:p.Ala742Val
NM_213599.3:c.2228C>T MANE Select	NP_998764.1:p.Ala743Val