Canonical Allele Identifier: CA337866412

Gene: TMEM240

Linked Data

• MyVariant Identifiers: chr1:g.1470995C>G (hg19) ; chr1:g.1535615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535615C>G , CM000663.2:g.1535615C>G	GRCh38
NC_000001.10:g.1470995C>G , CM000663.1:g.1470995C>G	GRCh37
NC_000001.9:g.1460858C>G	NCBI36
NG_041807.1:g.9746G>C
NG_053035.1:g.28473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.347G>C MANE Select	ENSP00000368007.4:p.Arg116Pro
ENST00000378733.8:c.347G>C	ENSP00000368007.4:p.Arg116Pro
ENST00000425828.1:c.347G>C	ENSP00000400311.1:p.Arg116Pro
NM_001114748.1:c.347G>C	NP_001108220.1:p.Arg116Pro
NM_001114748.2:c.347G>C MANE Select	NP_001108220.1:p.Arg116Pro