Canonical Allele Identifier: CA1274214

Gene: MR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.181034045T>C , CM000663.2:g.181034045T>C	GRCh38
NC_000001.10:g.181003181T>C , CM000663.1:g.181003181T>C	GRCh37
NC_000001.9:g.179269804T>C	NCBI36
NG_042221.1:g.5621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434571.7:c.38T>C	ENSP00000388504.2:p.Ile13Thr
ENST00000614012.5:c.38T>C	ENSP00000477563.1:p.Ile13Thr
ENST00000617803.5:c.38T>C	ENSP00000478976.2:p.Ile13Thr
ENST00000683652.1:c.38T>C	ENSP00000507049.1:p.Ile13Thr
ENST00000684662.1:c.38T>C	ENSP00000507447.1:p.Ile13Thr
ENST00000367580.6:c.38T>C MANE Select	ENSP00000356552.5:p.Ile13Thr
ENST00000282990.10:c.38T>C	ENSP00000282990.6:p.Ile13Thr
ENST00000367578.1:n.24T>C
ENST00000367579.7:c.38T>C	ENSP00000356551.3:p.Ile13Thr
ENST00000367580.5:c.38T>C	ENSP00000356552.5:p.Ile13Thr
ENST00000434571.6:c.38T>C	ENSP00000388504.2:p.Ile13Thr
ENST00000438435.6:n.36T>C
ENST00000486453.1:n.74T>C
ENST00000614012.4:c.38T>C	ENSP00000477563.1:p.Ile13Thr
ENST00000617803.4:c.38T>C	ENSP00000478976.1:p.Ile13Thr
NM_001194999.1:c.38T>C	NP_001181928.1:p.Ile13Thr
NM_001195000.1:c.38T>C	NP_001181929.1:p.Ile13Thr
NM_001195035.1:c.38T>C	NP_001181964.1:p.Ile13Thr
NM_001310213.1:c.-292T>C	NP_001297142.1:n.-292T>C
NM_001531.2:c.38T>C	NP_001522.1:p.Ile13Thr
XM_006711286.2:c.38T>C	XP_006711349.1:p.Ile13Thr
XM_011509463.1:c.38T>C	XP_011507765.1:p.Ile13Thr
XM_011509463.2:c.38T>C	XP_011507765.1:p.Ile13Thr
XM_024446611.1:c.38T>C	XP_024302379.1:p.Ile13Thr
NM_001194999.2:c.38T>C	NP_001181928.1:p.Ile13Thr
NM_001195000.2:c.38T>C	NP_001181929.1:p.Ile13Thr
NM_001195035.2:c.38T>C	NP_001181964.1:p.Ile13Thr
NM_001310213.2:c.-292T>C	NP_001297142.1:n.-292T>C
NM_001385161.1:c.38T>C MANE Select	NP_001372090.1:p.Ile13Thr
NM_001385162.1:c.38T>C	NP_001372091.1:p.Ile13Thr
NM_001385163.1:c.38T>C	NP_001372092.1:p.Ile13Thr
NM_001385164.1:c.38T>C	NP_001372093.1:p.Ile13Thr
NM_001531.3:c.38T>C	NP_001522.1:p.Ile13Thr