Canonical Allele Identifier: CA833401899

Gene: MKLN1

Linked Data

• dbSNP Id: rs1471697354
• gnomAD v3: 7-131418740-T-G
• gnomAD v4: 7-131418740-T-G
• MyVariant Identifiers: chr7:g.131103499T>G (hg19) ; chr7:g.131418740T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131418740T>G , CM000669.2:g.131418740T>G	GRCh38
NC_000007.13:g.131103499T>G , CM000669.1:g.131103499T>G	GRCh37
NC_000007.12:g.130754039T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000352689.11:c.847+4030T>G MANE Select	ENSP00000323527.6:n.847+4030T>G
ENST00000352689.10:c.847+4030T>G	ENSP00000323527.6:n.847+4030T>G
ENST00000421797.6:c.571+4030T>G	ENSP00000398094.2:n.571+4030T>G
ENST00000458153.5:c.*337+4030T>G	ENSP00000407705.1:n.*337+4030T>G
ENST00000494785.5:n.864+4030T>G
NM_001145354.1:c.778+4030T>G	NP_001138826.1:n.778+4030T>G
NM_013255.4:c.847+4030T>G	NP_037387.2:n.847+4030T>G
XM_005250356.1:c.226+4030T>G	XP_005250413.1:n.226+4030T>G
XM_006715993.1:c.847+4030T>G	XP_006716056.1:n.847+4030T>G
XM_011516224.1:c.847+4030T>G	XP_011514526.1:n.847+4030T>G
NM_001321316.1:c.226+4030T>G	NP_001308245.1:n.226+4030T>G
XM_006715993.3:c.847+4030T>G	XP_006716056.1:n.847+4030T>G
XM_011516224.3:c.847+4030T>G	XP_011514526.1:n.847+4030T>G
XM_024446766.1:c.571+4030T>G	XP_024302534.1:n.571+4030T>G
XM_024446767.1:c.571+4030T>G	XP_024302535.1:n.571+4030T>G
NM_013255.5:c.847+4030T>G MANE Select	NP_037387.2:n.847+4030T>G
NM_001145354.2:c.778+4030T>G	NP_001138826.1:n.778+4030T>G
NM_001321316.2:c.226+4030T>G	NP_001308245.1:n.226+4030T>G