Canonical Allele Identifier: CA2715781843

Gene: MKLN1

Linked Data

• dbSNP Id: rs2116370930

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131418747C>T , CM000669.2:g.131418747C>T	GRCh38
NC_000007.13:g.131103506C>T , CM000669.1:g.131103506C>T	GRCh37
NC_000007.12:g.130754046C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000352689.11:c.847+4037C>T MANE Select	ENSP00000323527.6:n.847+4037C>T
ENST00000352689.10:c.847+4037C>T	ENSP00000323527.6:n.847+4037C>T
ENST00000421797.6:c.571+4037C>T	ENSP00000398094.2:n.571+4037C>T
ENST00000458153.5:c.*337+4037C>T	ENSP00000407705.1:n.*337+4037C>T
ENST00000494785.5:n.864+4037C>T
NM_001145354.1:c.778+4037C>T	NP_001138826.1:n.778+4037C>T
NM_013255.4:c.847+4037C>T	NP_037387.2:n.847+4037C>T
XM_005250356.1:c.226+4037C>T	XP_005250413.1:n.226+4037C>T
XM_006715993.1:c.847+4037C>T	XP_006716056.1:n.847+4037C>T
XM_011516224.1:c.847+4037C>T	XP_011514526.1:n.847+4037C>T
NM_001321316.1:c.226+4037C>T	NP_001308245.1:n.226+4037C>T
XM_006715993.3:c.847+4037C>T	XP_006716056.1:n.847+4037C>T
XM_011516224.3:c.847+4037C>T	XP_011514526.1:n.847+4037C>T
XM_024446766.1:c.571+4037C>T	XP_024302534.1:n.571+4037C>T
XM_024446767.1:c.571+4037C>T	XP_024302535.1:n.571+4037C>T
NM_013255.5:c.847+4037C>T MANE Select	NP_037387.2:n.847+4037C>T
NM_001145354.2:c.778+4037C>T	NP_001138826.1:n.778+4037C>T
NM_001321316.2:c.226+4037C>T	NP_001308245.1:n.226+4037C>T