Canonical Allele Identifier: CA624619626

Gene: MINK1 CHRNE

Linked Data

• dbSNP Id: rs1391100612
• gnomAD v2: 17-4801291-C-G
• gnomAD v3: 17-4897996-C-G
• gnomAD v4: 17-4897996-C-G
• MyVariant Identifiers: chr17:g.4801291C>G (hg19) ; chr17:g.4897996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4897996C>G , CM000679.2:g.4897996C>G	GRCh38
NC_000017.10:g.4801291C>G , CM000679.1:g.4801291C>G	GRCh37
NC_000017.9:g.4742070C>G	NCBI36
NG_008029.2:g.10080G>C
NG_028005.1:g.69657C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355280.11:c.*709C>G (MINK1) MANE Select	ENSP00000347427.6:n.*709C>G
ENST00000649488.2:c.*740G>C (CHRNE) MANE Select	ENSP00000497829.1:n.*740G>C
ENST00000652550.1:n.1948G>C (CHRNE)
ENST00000293780.4:c.*740G>C (CHRNE)	ENSP00000293780.4:n.*740G>C
ENST00000347992.11:c.*709C>G (MINK1)	ENSP00000269296.7:n.*709C>G
ENST00000355280.10:c.*709C>G (MINK1)	ENSP00000347427.6:n.*709C>G
ENST00000571207.5:c.4504C>G (MINK1)
ENST00000574453.5:c.*4377C>G (MINK1)	ENSP00000461500.1:n.*4377C>G
ENST00000574871.1:n.3086C>G (MINK1)
NM_000080.3:c.*740G>C (CHRNE)	NP_000071.1:n.*740G>C
NM_001024937.3:c.*709C>G (MINK1)	NP_001020108.1:n.*709C>G
NM_015716.4:c.*709C>G (MINK1)	NP_056531.1:n.*709C>G
NM_153827.4:c.*709C>G (MINK1)	NP_722549.2:n.*709C>G
NM_170663.4:c.*709C>G (MINK1)	NP_733763.1:n.*709C>G
XM_005256664.2:c.*709C>G (MINK1)	XP_005256721.1:n.*709C>G
XM_005256665.2:c.*709C>G (MINK1)	XP_005256722.1:n.*709C>G
XM_006721530.2:c.*709C>G (MINK1)	XP_006721593.1:n.*709C>G
XM_006721531.2:c.*709C>G (MINK1)	XP_006721594.1:n.*709C>G
XM_006721532.2:c.*709C>G (MINK1)	XP_006721595.1:n.*709C>G
XM_006721533.2:c.*709C>G (MINK1)	XP_006721596.1:n.*709C>G
XM_006721534.2:c.*709C>G (MINK1)	XP_006721597.1:n.*709C>G
XM_006721535.2:c.*709C>G (MINK1)	XP_006721598.1:n.*709C>G
XM_006721536.2:c.*709C>G (MINK1)	XP_006721599.1:n.*709C>G
XM_006721538.2:c.*709C>G (MINK1)	XP_006721601.1:n.*709C>G
XM_011523905.1:c.*709C>G (MINK1)	XP_011522207.1:n.*709C>G
XM_011523906.1:c.*709C>G (MINK1)	XP_011522208.1:n.*709C>G
XM_011523907.1:c.*709C>G (MINK1)	XP_011522209.1:n.*709C>G
XM_011523908.1:c.*709C>G (MINK1)	XP_011522210.1:n.*709C>G
NM_000080.4:c.*740G>C (CHRNE) MANE Select	NP_000071.1:n.*740G>C
NM_001321236.1:c.*709C>G (MINK1)	NP_001308165.1:n.*709C>G
XM_017024704.1:c.*709C>G (MINK1)	XP_016880193.1:n.*709C>G
XM_017024705.1:c.*709C>G (MINK1)	XP_016880194.1:n.*709C>G
XM_017024706.1:c.*709C>G (MINK1)	XP_016880195.1:n.*709C>G
XM_017024707.2:c.*709C>G (MINK1)	XP_016880196.1:n.*709C>G
XM_017024708.1:c.*709C>G (MINK1)	XP_016880197.1:n.*709C>G
XR_001752522.2:n.5053C>G (MINK1)
NM_153827.5:c.*709C>G (MINK1) MANE Select	NP_722549.2:n.*709C>G
NM_001024937.4:c.*709C>G (MINK1)	NP_001020108.1:n.*709C>G
NM_001321236.2:c.*709C>G (MINK1)	NP_001308165.1:n.*709C>G
NM_015716.5:c.*709C>G (MINK1)	NP_056531.1:n.*709C>G
NM_170663.5:c.*709C>G (MINK1)	NP_733763.1:n.*709C>G