Canonical Allele Identifier: CA167209408

Gene: MKLN1

Linked Data

• dbSNP Id: rs947995057
• gnomAD v3: 7-131336365-C-T
• gnomAD v4: 7-131336365-C-T
• MyVariant Identifiers: chr7:g.131021124C>T (hg19) ; chr7:g.131336365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131336365C>T , CM000669.2:g.131336365C>T	GRCh38
NC_000007.13:g.131021124C>T , CM000669.1:g.131021124C>T	GRCh37
NC_000007.12:g.130671664C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000352689.11:c.98+8368C>T MANE Select	ENSP00000323527.6:n.98+8368C>T
ENST00000352689.10:c.98+8368C>T	ENSP00000323527.6:n.98+8368C>T
ENST00000416992.6:c.-178-39059C>T	ENSP00000387920.1:n.-178-39059C>T
ENST00000421797.6:c.-178-39059C>T	ENSP00000398094.2:n.-178-39059C>T
ENST00000429546.5:c.-178-39059C>T	ENSP00000399954.1:n.-178-39059C>T
ENST00000446815.5:c.-109+8368C>T	ENSP00000412815.1:n.-109+8368C>T
ENST00000458153.5:c.98+8368C>T	ENSP00000407705.1:n.98+8368C>T
ENST00000494286.5:n.142+8368C>T
ENST00000494785.5:n.115+8368C>T
NM_001145354.1:c.30-39059C>T	NP_001138826.1:n.30-39059C>T
NM_013255.4:c.98+8368C>T	NP_037387.2:n.98+8368C>T
XM_006715993.1:c.98+8368C>T	XP_006716056.1:n.98+8368C>T
XM_011516224.1:c.98+8368C>T	XP_011514526.1:n.98+8368C>T
NM_001321316.1:c.-527+8368C>T	NP_001308245.1:n.-527+8368C>T
XM_006715993.3:c.98+8368C>T	XP_006716056.1:n.98+8368C>T
XM_011516224.3:c.98+8368C>T	XP_011514526.1:n.98+8368C>T
XM_024446766.1:c.-216+8368C>T	XP_024302534.1:n.-216+8368C>T
XM_024446767.1:c.-178-39059C>T	XP_024302535.1:n.-178-39059C>T
NM_013255.5:c.98+8368C>T MANE Select	NP_037387.2:n.98+8368C>T
NM_001145354.2:c.30-39059C>T	NP_001138826.1:n.30-39059C>T
NM_001321316.2:c.-527+8368C>T	NP_001308245.1:n.-527+8368C>T