Canonical Allele Identifier: CA369521299

Gene: MKRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140459871G>C , CM000669.2:g.140459871G>C	GRCh38
NC_000007.13:g.140159671G>C , CM000669.1:g.140159671G>C	GRCh37
NC_000007.12:g.139806140G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013446.4:c.380C>G MANE Select	NP_038474.2:p.Ser127Cys
ENST00000255977.7:c.380C>G MANE Select	ENSP00000255977.2:p.Ser127Cys
NM_001145125.1:c.380C>G	NP_001138597.1:p.Ser127Cys
NM_001145125.2:c.380C>G	NP_001138597.1:p.Ser127Cys
NM_001291663.1:c.188C>G	NP_001278592.1:p.Ser63Cys
NM_001291663.2:c.188C>G	NP_001278592.1:p.Ser63Cys
NM_013446.3:c.380C>G	NP_038474.2:p.Ser127Cys
NR_117084.1:n.540-3005C>G
ENST00000255977.6:c.380C>G	ENSP00000255977.2:p.Ser127Cys
ENST00000443720.6:c.380C>G	ENSP00000416369.2:p.Ser127Cys
ENST00000467513.5:c.188C>G	ENSP00000418588.1:p.Ser63Cys
ENST00000471104.5:c.188C>G	ENSP00000418864.1:p.Ser63Cys
ENST00000473444.1:c.233C>G	ENSP00000418620.1:p.Ser78Cys
ENST00000474576.5:c.188C>G	ENSP00000417863.1:p.Ser63Cys
ENST00000475010.5:n.372C>G
ENST00000475180.5:c.530C>G	ENSP00000419259.1:n.530C>G
ENST00000480552.5:c.123-3005C>G	ENSP00000419894.1:n.123-3005C>G
ENST00000494939.1:c.188C>G	ENSP00000419843.1:p.Ser63Cys
ENST00000495305.5:c.315-3005C>G	ENSP00000417640.1:n.315-3005C>G
ENST00000496169.5:c.*260C>G	ENSP00000417907.1:n.*260C>G
ENST00000498535.1:c.*171C>G	ENSP00000419695.1:n.*171C>G
XM_011515996.1:c.251C>G	XP_011514298.1:p.Ser84Cys
XM_011515996.2:c.251C>G	XP_011514298.1:p.Ser84Cys
XM_011515997.1:c.188C>G	XP_011514299.1:p.Ser63Cys
XM_011515997.3:c.188C>G	XP_011514299.1:p.Ser63Cys
XM_011515998.1:c.188C>G	XP_011514300.1:p.Ser63Cys