Canonical Allele Identifier: CA21847595

Linked Data

ClinVar Variation Id: 1218428
ClinVar RCV Id: RCV001592270
dbSNP Id: rs186773272
gnomAD v2: 1-45806366-G-A
gnomAD v3: 1-45340694-G-A
gnomAD v4: 1-45340694-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340694G>A , CM000663.2:g.45340694G>A GRCh38
NC_000001.10:g.45806366G>A , CM000663.1:g.45806366G>A GRCh37
NC_000001.9:g.45578953G>A NCBI36
NG_008189.1:g.4777C>T , LRG_220:g.4777C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372090.6:c.53-379G>A (TOE1) MANE Select ENSP00000361162.5:n.53-379G>A
ENST00000671898.1:c.541-6183C>T ENSP00000499896.1:n.541-6183C>T
ENST00000672011.1:c.-440C>T (MUTYH) ENSP00000500418.1:n.-440C>T
ENST00000372090.5:c.53-379G>A (TOE1) ENSP00000361162.5:n.53-379G>A
ENST00000471337.5:n.131-379G>A (TOE1)
ENST00000477731.5:n.271+372G>A (TOE1)
ENST00000495703.5:n.322+152G>A (TOE1)
NM_025077.3:c.53-379G>A (TOE1) NP_079353.3:n.53-379G>A
XM_005270412.2:c.70+372G>A (TOE1) XP_005270469.1:n.70+372G>A
XM_005270413.3:c.-87+152G>A (TOE1) XP_005270470.1:n.-87+152G>A
XM_011540569.1:c.-232-379G>A (TOE1) XP_011538871.1:n.-232-379G>A
XR_246230.2:n.330-379G>A (TOE1)
XR_426587.2:n.149+372G>A (TOE1)
XR_946532.1:n.149+372G>A (TOE1)
XM_005270412.4:c.70+372G>A (TOE1) XP_005270469.1:n.70+372G>A
XM_005270413.5:c.-87+152G>A (TOE1) XP_005270470.1:n.-87+152G>A
XM_011540569.3:c.-232-379G>A (TOE1) XP_011538871.1:n.-232-379G>A
XM_024452837.1:c.-87+152G>A (TOE1) XP_024308605.1:n.-87+152G>A
XR_001736951.2:n.240-379G>A (TOE1)
XR_002959287.1:n.555-379G>A (TOE1)
XR_246230.4:n.240-379G>A (TOE1)
XR_426587.4:n.149+372G>A (TOE1)
XR_946532.3:n.149+372G>A (TOE1)
NM_025077.4:c.53-379G>A (TOE1) MANE Select NP_079353.3:n.53-379G>A