Canonical Allele Identifier: CA167186834

Gene: MKLN1

Linked Data

• dbSNP Id: rs904919367
• MyVariant Identifiers: chr7:g.130900101C>T (hg19) ; chr7:g.131215342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131215342C>T , CM000669.2:g.131215342C>T	GRCh38
NC_000007.13:g.130900101C>T , CM000669.1:g.130900101C>T	GRCh37
NC_000007.12:g.130550641C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416992.6:c.-179+12368C>T	ENSP00000387920.1:n.-179+12368C>T
ENST00000421797.6:c.-179+72401C>T	ENSP00000398094.2:n.-179+72401C>T
NM_001145354.1:c.29+72401C>T	NP_001138826.1:n.29+72401C>T
XM_024446767.1:c.-179+12368C>T	XP_024302535.1:n.-179+12368C>T
NM_001145354.2:c.29+72401C>T	NP_001138826.1:n.29+72401C>T