Canonical Allele Identifier: CA624619604

Gene: MINK1 CHRNE

Linked Data

• dbSNP Id: rs886053113
• gnomAD v2: 17-4801195-G-T
• gnomAD v3: 17-4897900-G-T
• gnomAD v4: 17-4897900-G-T
• MyVariant Identifiers: chr17:g.4801195G>T (hg19) ; chr17:g.4897900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4897900G>T , CM000679.2:g.4897900G>T	GRCh38
NC_000017.10:g.4801195G>T , CM000679.1:g.4801195G>T	GRCh37
NC_000017.9:g.4741971G>T	NCBI36
NG_008029.2:g.10176C>A
NG_028005.1:g.69561G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355280.11:c.*613G>T (MINK1) MANE Select	ENSP00000347427.6:n.*613G>T
ENST00000649488.2:c.*836C>A (CHRNE) MANE Select	ENSP00000497829.1:n.*836C>A
ENST00000652550.1:n.2044C>A (CHRNE)
ENST00000293780.4:c.*836C>A (CHRNE)	ENSP00000293780.4:n.*836C>A
ENST00000347992.11:c.*613G>T (MINK1)	ENSP00000269296.7:n.*613G>T
ENST00000355280.10:c.*613G>T (MINK1)	ENSP00000347427.6:n.*613G>T
ENST00000571207.5:c.4408G>T (MINK1)
ENST00000574453.5:c.*4281G>T (MINK1)	ENSP00000461500.1:n.*4281G>T
ENST00000574871.1:n.2990G>T (MINK1)
NM_000080.3:c.*836C>A (CHRNE)	NP_000071.1:n.*836C>A
NM_001024937.3:c.*613G>T (MINK1)	NP_001020108.1:n.*613G>T
NM_015716.4:c.*613G>T (MINK1)	NP_056531.1:n.*613G>T
NM_153827.4:c.*613G>T (MINK1)	NP_722549.2:n.*613G>T
NM_170663.4:c.*613G>T (MINK1)	NP_733763.1:n.*613G>T
XM_005256664.2:c.*613G>T (MINK1)	XP_005256721.1:n.*613G>T
XM_005256665.2:c.*613G>T (MINK1)	XP_005256722.1:n.*613G>T
XM_006721530.2:c.*613G>T (MINK1)	XP_006721593.1:n.*613G>T
XM_006721531.2:c.*613G>T (MINK1)	XP_006721594.1:n.*613G>T
XM_006721532.2:c.*613G>T (MINK1)	XP_006721595.1:n.*613G>T
XM_006721533.2:c.*613G>T (MINK1)	XP_006721596.1:n.*613G>T
XM_006721534.2:c.*613G>T (MINK1)	XP_006721597.1:n.*613G>T
XM_006721535.2:c.*613G>T (MINK1)	XP_006721598.1:n.*613G>T
XM_006721536.2:c.*613G>T (MINK1)	XP_006721599.1:n.*613G>T
XM_006721538.2:c.*613G>T (MINK1)	XP_006721601.1:n.*613G>T
XM_011523905.1:c.*613G>T (MINK1)	XP_011522207.1:n.*613G>T
XM_011523906.1:c.*613G>T (MINK1)	XP_011522208.1:n.*613G>T
XM_011523907.1:c.*613G>T (MINK1)	XP_011522209.1:n.*613G>T
XM_011523908.1:c.*613G>T (MINK1)	XP_011522210.1:n.*613G>T
NM_000080.4:c.*836C>A (CHRNE) MANE Select	NP_000071.1:n.*836C>A
NM_001321236.1:c.*613G>T (MINK1)	NP_001308165.1:n.*613G>T
XM_017024704.1:c.*613G>T (MINK1)	XP_016880193.1:n.*613G>T
XM_017024705.1:c.*613G>T (MINK1)	XP_016880194.1:n.*613G>T
XM_017024706.1:c.*613G>T (MINK1)	XP_016880195.1:n.*613G>T
XM_017024707.2:c.*613G>T (MINK1)	XP_016880196.1:n.*613G>T
XM_017024708.1:c.*613G>T (MINK1)	XP_016880197.1:n.*613G>T
XR_001752522.2:n.4957G>T (MINK1)
NM_153827.5:c.*613G>T (MINK1) MANE Select	NP_722549.2:n.*613G>T
NM_001024937.4:c.*613G>T (MINK1)	NP_001020108.1:n.*613G>T
NM_001321236.2:c.*613G>T (MINK1)	NP_001308165.1:n.*613G>T
NM_015716.5:c.*613G>T (MINK1)	NP_056531.1:n.*613G>T
NM_170663.5:c.*613G>T (MINK1)	NP_733763.1:n.*613G>T