Canonical Allele Identifier: CA2580583281

Gene: SMIM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3774964A>T , CM000663.2:g.3774964A>T	GRCh38
NC_000001.10:g.3691528A>T , CM000663.1:g.3691528A>T	GRCh37
NC_000001.9:g.3681388A>T	NCBI36
NG_033869.1:g.7204A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001288583.2:c.-75-335A>T MANE Select	NP_001275512.1:n.-75-335A>T
ENST00000642557.4:c.-75-335A>T MANE Select	ENSP00000496314.2:n.-75-335A>T
NM_001163724.2:c.-75-335A>T	NP_001157196.1:n.-75-335A>T
NM_001163724.3:c.-75-335A>T	NP_001157196.1:n.-75-335A>T
NM_001288583.1:c.-75-335A>T	NP_001275512.1:n.-75-335A>T
NM_001379690.1:c.-75-335A>T	NP_001366619.1:n.-75-335A>T
NM_001379691.1:c.-75-335A>T	NP_001366620.1:n.-75-335A>T
ENST00000444870.6:c.-75-335A>T	ENSP00000457386.1:n.-75-335A>T
ENST00000444870.7:c.-75-335A>T	ENSP00000457386.1:n.-75-335A>T
ENST00000452264.1:c.-75-335A>T	ENSP00000457674.1:n.-75-335A>T
ENST00000561886.1:c.-75-335A>T	ENSP00000456559.1:n.-75-335A>T
ENST00000561886.2:c.-75-335A>T	ENSP00000456559.1:n.-75-335A>T