Canonical Allele Identifier: CA2635575435

Linked Data

gnomAD v4: 17-4897848-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4897848T>G , CM000679.2:g.4897848T>G GRCh38
NC_000017.10:g.4801143T>G , CM000679.1:g.4801143T>G GRCh37
NC_000017.9:g.4741919T>G NCBI36
NG_008029.2:g.10228A>C
NG_028005.1:g.69509T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355280.11:c.*561T>G (MINK1) MANE Select ENSP00000347427.6:n.*561T>G
ENST00000649488.2:c.*888A>C (CHRNE) MANE Select ENSP00000497829.1:n.*888A>C
ENST00000652550.1:n.2096A>C (CHRNE)
ENST00000293780.4:c.*888A>C (CHRNE) ENSP00000293780.4:n.*888A>C
ENST00000347992.11:c.*561T>G (MINK1) ENSP00000269296.7:n.*561T>G
ENST00000355280.10:c.*561T>G (MINK1) ENSP00000347427.6:n.*561T>G
ENST00000571207.5:c.4356T>G (MINK1)
ENST00000574453.5:c.*4229T>G (MINK1) ENSP00000461500.1:n.*4229T>G
ENST00000574871.1:n.2938T>G (MINK1)
NM_000080.3:c.*888A>C (CHRNE) NP_000071.1:n.*888A>C
NM_001024937.3:c.*561T>G (MINK1) NP_001020108.1:n.*561T>G
NM_015716.4:c.*561T>G (MINK1) NP_056531.1:n.*561T>G
NM_153827.4:c.*561T>G (MINK1) NP_722549.2:n.*561T>G
NM_170663.4:c.*561T>G (MINK1) NP_733763.1:n.*561T>G
XM_005256664.2:c.*561T>G (MINK1) XP_005256721.1:n.*561T>G
XM_005256665.2:c.*561T>G (MINK1) XP_005256722.1:n.*561T>G
XM_006721530.2:c.*561T>G (MINK1) XP_006721593.1:n.*561T>G
XM_006721531.2:c.*561T>G (MINK1) XP_006721594.1:n.*561T>G
XM_006721532.2:c.*561T>G (MINK1) XP_006721595.1:n.*561T>G
XM_006721533.2:c.*561T>G (MINK1) XP_006721596.1:n.*561T>G
XM_006721534.2:c.*561T>G (MINK1) XP_006721597.1:n.*561T>G
XM_006721535.2:c.*561T>G (MINK1) XP_006721598.1:n.*561T>G
XM_006721536.2:c.*561T>G (MINK1) XP_006721599.1:n.*561T>G
XM_006721538.2:c.*561T>G (MINK1) XP_006721601.1:n.*561T>G
XM_011523905.1:c.*561T>G (MINK1) XP_011522207.1:n.*561T>G
XM_011523906.1:c.*561T>G (MINK1) XP_011522208.1:n.*561T>G
XM_011523907.1:c.*561T>G (MINK1) XP_011522209.1:n.*561T>G
XM_011523908.1:c.*561T>G (MINK1) XP_011522210.1:n.*561T>G
NM_000080.4:c.*888A>C (CHRNE) MANE Select NP_000071.1:n.*888A>C
NM_001321236.1:c.*561T>G (MINK1) NP_001308165.1:n.*561T>G
XM_017024704.1:c.*561T>G (MINK1) XP_016880193.1:n.*561T>G
XM_017024705.1:c.*561T>G (MINK1) XP_016880194.1:n.*561T>G
XM_017024706.1:c.*561T>G (MINK1) XP_016880195.1:n.*561T>G
XM_017024707.2:c.*561T>G (MINK1) XP_016880196.1:n.*561T>G
XM_017024708.1:c.*561T>G (MINK1) XP_016880197.1:n.*561T>G
XR_001752522.2:n.4905T>G (MINK1)
NM_153827.5:c.*561T>G (MINK1) MANE Select NP_722549.2:n.*561T>G
NM_001024937.4:c.*561T>G (MINK1) NP_001020108.1:n.*561T>G
NM_001321236.2:c.*561T>G (MINK1) NP_001308165.1:n.*561T>G
NM_015716.5:c.*561T>G (MINK1) NP_056531.1:n.*561T>G
NM_170663.5:c.*561T>G (MINK1) NP_733763.1:n.*561T>G