Canonical Allele Identifier: CA365297619

Gene: SIM1

Linked Data

• MyVariant Identifiers: chr6:g.100838416T>C (hg19) ; chr6:g.100390540T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.100390540T>C , CM000668.2:g.100390540T>C	GRCh38
NC_000006.11:g.100838416T>C , CM000668.1:g.100838416T>C	GRCh37
NC_000006.10:g.100945137T>C	NCBI36
NG_008230.1:g.78136A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369208.8:c.2122A>G MANE Select	ENSP00000358210.4:p.Lys708Glu
ENST00000262901.4:c.2122A>G	ENSP00000262901.4:p.Lys708Glu
ENST00000369208.7:c.2122A>G	ENSP00000358210.3:p.Lys708Glu
NM_005068.2:c.2122A>G	NP_005059.2:p.Lys708Glu
XM_005267100.2:c.2122A>G	XP_005267157.1:p.Lys708Glu
XM_017011197.1:c.2122A>G	XP_016866686.1:p.Lys708Glu
NM_001374769.1:c.2122A>G	NP_001361698.1:p.Lys708Glu
NM_005068.3:c.2122A>G MANE Select	NP_005059.2:p.Lys708Glu